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205 variant records found |
[show instead phene records] |
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | OMIA Phene-Species ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1322 | OMIA:001402-9685 | domestic cat | Balinese (Cat) Domestic Longhair (Cat) Domestic Medium Hair (Cat) Domestic Shorthair (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) Ragdoll (Cat) Russian Blue (Cat) Siamese (Cat) Turkish Angora (Cat) | Adverse reaction to certain drugs | ABCB1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1g.91572902_91572903del | NM_001171064.2:c.1930_1931del | published as ABCB1:1930_1931delTC; protein product is predicted to be severely truncated (~50%) and non functional | 2015 | 25660379 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:34125616 and PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1073 | OMIA:000388-9685 | domestic cat | Domestic Shorthair (Cat) | Fibrodysplasia ossificans progressiva | ACVR1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | NC_058375.1:g.147442389C>T | XM_045033838.1:c.617G>A | XP_044889773.1:p.(R206H) | 2019 | 31007133 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1589 | OMIA:000328-9685 | domestic cat | Domestic Shorthair (Cat) | Ehlers-Danlos syndrome | ADAMTS2 | delins, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.90995621dup | XM_023254116.2:c.698dup | XP_023109884.2:p.(S235Qfs*3) | 2023 | 37462293 | ||||
| 1214 | OMIA:001222-9685 | domestic cat | Persian (Cat) | Leber congenital amaurosis | AIPL1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.940554C>T | XM_045044616.1:c.577C>T | XP_044900551.1:p.(R193*) | 2016 | 27030474 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1292 | OMIA:002316-9685 | domestic cat | American Shorthair (Cat) British Longhair (Cat) British Shorthair (Cat) Devon Rex (Cat) Exotic Shorthair (Cat) Maine Coon (Cat) Munchkin (Cat) Ragdoll (Cat) Scottish Fold (Cat) Sphynx (Cat) | Cardiomyopathy, hypertrophic | ALMS1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.89899157G>C | XM_045054402.1:c.11647G>C | XP_044910337.1:p.(G3883R) | cDNA and protein positions have been predicted using Ensemble VEP based on transcript ENSFCAT00000077013.1; variant initially reported in Sphynx cats and in a later study (Akiyama et al., 2023) identified in other breeds. Turba et al., 2023 report additional variants in the vicinity that can result in allele dropout in DNA tests and indicate "the need to verify the correspondence between the [Felis_catus_9.0:}g.92439157 C variant frequency and the prevalence of HCM" due to high allele frequency of the variant in Sphynx cats in their study. Seo et al. (2024) also identified this variant frequently in Sphynx cats but reported that the variant "was not associated with the HCM diagnosis in the studied population." Additional breeds in which the variant has been reported are based on PMID:38371598. c. coordinates were previouly listed in OMIA based on transcript ENSFCAT00000077013.1:c.7384G>C / p.(G2462R). |
rs5334475133 | 2021 | 33639992 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 550 | OMIA:002717-9685 | domestic cat | Burmese (Cat) | Brachycephaly | ALX1 | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.107855022_107855033del | XM_003989090.5:c.497_508del | XP_003989139.1:p.(A166_T169del) | published as c.496delCTCTCAGGACTG | 2016 | 26610632 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1752 | OMIA:001201-9685 | domestic cat | Orange coat colour | ARHGAP36 | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | Felis_catus_9.0 | X | NC_018741.3:g.110432079_110437152del | Published by Toh et al. (2024) as g.109186183_109191258del based on the AnAms1.0 reference genome (Matsumoto et al., 2024). This deletion is located within the first intron of ARHGAP36 (Toh et al., 2024). Coordinates in this table are based on a reference genome avialable in the NCBI genome data viewer. The cat sequenced for F.catus_Fca126_mat1.0 is orange - the coordinates for the breakpoints are NC_058386.1:107721951_107721952. | 2024 | 39605675 | |||||||
| 1320 | OMIA:000666-9685 | domestic cat | Siamese (Cat) | Mucopolysaccharidosis VI, mild, in L476P/D520N cats | ARSB | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.142610129C>T | NM_001142259.1:c.1558G>A | NP_001135731.1:p.(D520N) | D520N/D520N and L476P/D520N cats have normal growth and appearance. L476P/D520N cats have a very mild MPS VI phenotype (increased incidence of degenerative joint disease). | 1998 | 9421472 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 132 | OMIA:000666-9685 | domestic cat | Domestic Shorthair (Cat) Siamese (Cat) | Mucopolysaccharidosis VI | ARSB | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.142610260A>G | NM_001142259.1:c.1427T>C | NP_001135731.1:p.(L476P) | rs5334475159 | 1996 | 8910299 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1453 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.24826914T>C | NM_001009190.1:c.302A>G | NP_001009190.1:p.(D101G) | variant contributes to A^Pbe haplotype associated with charcoal colour/pattern | 2014 | 25143047 | ||
| 1452 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.24826965T>C | NM_001009190.1:c.251A>G | NP_001009190.1:p.(Q84R) | variant contributes to A^Pbe haplotype associated with charcoal colour/pattern | 2014 | 25143047 | ||
| 1450 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.24831065A>G | NM_001009190.1:c.142T>C | NP_001009190.1:p.(S48P) | variant contributes to A^Pbe haplotype associated with charcoal colour/pattern | 2014 | 25143047 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 493 | OMIA:000201-9685 | domestic cat | Coat colour, non-agouti (black) | ASIP | a | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.24831083_24831084del | NM_001009190.1:c.123_124del | NP_001009190.1:p.(M42Efs*59) | rs5334475125 | 2003 | 12620197 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1451 | OMIA:002549-9685 | domestic cat | Bengal (Cat) | Coat colour and pattern, charcoal | ASIP | A^Pben | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.24831166C>G | NM_001009190.1:c.41G>C | NP_001009190.1:p.(C14S) | variant contributes to A^Pbe haplotype associated with charcoal colour/pattern | 2014 | 25143047 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1309 | OMIA:002325-9685 | domestic cat | Encephalopathy, spongy | ASPA | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.13594036C>G | XM_006939957.5:c.859G>C | XP_006940019.2:p.(A287P) | 2021 | 33779415 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1347 | OMIA:001071-9685 | domestic cat | Wilson disease | ATP7B | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.19545959C>T | XM_023251165.2:c.1649C>T | XP_023106933.2:p.(P550L) | 2020 | 31687873 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1590 | OMIA:001071-9685 | domestic cat | Domestic Longhair (Cat) | Wilson disease | ATP7B | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.19573282T>A | XM_023251165.1:c.3670T>A | XP_023106933.2:p.(W1224R) | variant heterozygous in a single affected cat | 2023 | 37427085 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1136 | OMIA:001071-9685 | domestic cat | Wilson disease | ATP7B | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.19574780C>G | XM_023251165.2:c.3890C>G | XP_023106933.2:p.(T1297R) | 2019 | 30561139 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1787 | OMIA:002939-9685 | domestic cat | Bengal (Cat) | Epileptic encephalopathy | CAD | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.118599900C>T | XM_011281284.3:c.6044G>A | XP_011279586.1:p.(Ser2015Asn) | 2025 | 40251393 | ||||
| 384 | OMIA:001244-9685 | domestic cat | Abyssinian (Cat) American Curl (Cat) American Shorthair (Cat) American Wirehair (Cat) Balinese (Cat) Bengal (Cat) Colorpoint Shorthair (Cat) Cornish Rex (Cat) Devon Rex (Cat) Donskoy (Cat) European Shorthair (Cat) Havana (Cat) Highlander (Cat) Maine Coon (Cat) Manx (Cat) Munchkin (Cat) Ocicat (Cat) Oriental Longhair (Cat) Oriental Shorthair (Cat) Peterbald (Cat) Pixiebob Longhair (Cat) Ragdoll (Cat) Scottish Fold (Cat) Siamese (Cat) Singapura (Cat) Somali (Cat) Sphynx (Cat) Tennessee Rex (Cat) Tonkinese (Cat) | Retinal degeneration II | CEP290 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.110285757A>C | XM_023256243.2:c.7584+9T>G | published as IVS50 + 9T>G. The cat sequenced to generate the Felis_catus_9.0 reference genome is homozygous for the likely causal variant. The genomic and cDNA coordinates had therefore been previously listed in this table as Felis_catus_9.0:g.112522818TC>A and c.7584+9G>T. The information has been updated based on feedback from 潘旭 to reflect that the likely causal variant is c.7584+9G and that the normal allele is c.7584+9T [6/4/2023]. Variant was initially identified in the Abyssinian and Somali breeds but identified to be present in several other breeds (Pubmed:19747862; PMID:35709088) |
2007 | 17507457 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1573 | OMIA:000698-9685 | domestic cat | Domestic Longhair (Cat) | Myotonia | CLCN1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1:g.157186686_157186693del | NM_001305027.1:c.428_433+1del | NP_001291956.1:p.(L143Qfs3*) | published as chrA2:15897085‐15897092 | 2022 | 35815860 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1623 | OMIA:000698-9685 | domestic cat | Myotonia | CLCN1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1:g.157195914G>C | NM_001305027.1:c.991G>C | NP_001291956.1:p.(A331P) | 2023 | 37668104 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 408 | OMIA:000698-9685 | domestic cat | Myotonia | CLCN1 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1:g.157205990G>T | NM_001305027.1:c.1930+1G>T | 2014 | 25356766 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 1213 | OMIA:001443-9685 | domestic cat | Domestic Medium Hair (Cat) | Neuronal ceroid lipofuscinosis, 6 | CLN6 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B3 | NC_058373.1:g.37187417G>A | XM_003987007.6:c.668G>A | XP_003987056.1:p.(W223*) | published as ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A | rs5334475122 | 2020 | 32518081 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 431 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | regulatory | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4640833T>C | published as C-371T; the cat sequenced to create F.catus_Fca126_mat1.0 represents the T allele | 2007 | 17553163 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 1432 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | regulatory | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4640987G>A | published as G-217A, the cat sequenced to create F.catus_Fca126_mat1.0 represents the G allele | 2007 | 17553163 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 430 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | insertion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4641133_4641151del | published as "an indel in the exon 1 5' UTR"; Delta-53; Felis_catus_9.0 represents the deletion allele: g.4934941_4934942insAACGAGCAACCGAAGCTG | 2007 | 17553163 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||||
| 1431 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4641555C>T | NM_001244985.1:c.139C>T | NP_001231914.1:p.(R47C) | published as c.136C>T | 2014 | 24697343 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 118 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4641558A>G | NM_001244985.1:c.142G>A | NP_001231914.1:p.(V48M) | published as Felis_catus_6.2: B2:4587414G>A; c.139G>A; p.(V47M); F.catus_Fca126_mat1.0 represents the A allele while transcript NM_001244985.1 represents the G allele | rs5334475157 | 2007 | 17553163 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 800 | OMIA:000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4641595G>T | NM_001244985.1:c.179G>T | NP_001231914.1:p.(G60V) | rs5334475140 | 2016 | 27755584 | The genomic location on Felis_catus_9.0 was based on Rodney et al. 2021 (PMID: 33785770), updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 801 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4641603A>G | NM_001244985.1:c.187A>G | NP_001231914.1:p.(I63V) | 2016 | 27755584 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 119 | OMIA:000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4644950A>T | NM_001244985.1:c.268T>A | NP_001231914.1:p.(Y90N) | published as c.265T>A (2007); revised designation of c.268T>A was reported by Kehl et al. (2019); F.catus_Fca126_mat1.0 represents the A allele while transcript NM_001244985.1 represents the T allele. | rs5334475138 | 2007 | 17553163 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1446 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4653784C>A | NM_001244985.1:c.327A>C | NP_001231914.1:p.(E109D) | published as c.327A>C; variant is reported to be not causal for blood type B, but may impact Neu5GC levels (Omi et al.,2016). The Felis_catus_9.0 and F.catus_Fca126_mat1.0 reference genomes represent the C allele, while transcript NM_001244985.1 represents the A allele. |
2016 | 27171395 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 799 | OMIA:000119-9685 | domestic cat | Ragdoll (Cat) | 2019 TYPING PANEL | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4653821.C>T | NM_001244985.1:c.364C>T | NP_001231914.1:p.(P122S) | rs5334475151 | 2016 | 27171395 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1413 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4659871G>A | NM_001244985.1:c.773G>A | NP_001231914.1:p.(R258Q) | 2021 | 34589535 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1430 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4661662del | NM_001244985.1:c.933del | NM_001244985.1:p.(A312Hfs*6) | 2018 | 30235335 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1062 | OMIA:000119-9685 | domestic cat | Ragdoll (Cat) | 2019 TYPING PANEL | CMAH | deletion, small (<=20) | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4685206del | NM_001244985.1:c.1322del | NP_001231914.1:p.(L441*) | published as c.1322delT | 2018 | 30235335 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 120 | OMIA:000119-9685 | domestic cat | Blood group system AB | CMAH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.4692013A>G | NM_001244985.1:c.1603G>A | NP_001231914.1:p.(D535N) | published as c.1600G>A; p.(D534N); F.catus_Fca126_mat1.0 represents the A allele while NM_001244985.1 represents the G allele | rs5334475141 | 2007 | 17553163 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1634 | OMIA:002793-9685 | domestic cat | American Shorthair (Cat) | Epidermolysis bullosa, junctional, COL17A1-related | COL17A1 | deletion, small (<=20) | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D2 | NC_058378.1:g.62124169del | XM_006938156.5:c.3019+1del | variant reported in a single affected cat | 2023 | 37895184 | ||||
| 1635 | OMIA:002793-9685 | domestic cat | European Shorthair (Cat) | Epidermolysis bullosa, junctional, COL17A1-related | COL17A1 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D2 | NC_058378.1:g.62149308C>T | XM_006938156.5:c.769+5G>A | XP_006938218.3:p.(V257Gfs*82) | variant described in a single affected cat | 2023 | 37895184 | |||
| 1465 | OMIA:002165-9685 | domestic cat | Bombay (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:g.93614145T>A | XM_023242950.2:c.3517A>T | XP_023098718.2:p.(K1173*) | published as c.3514A>T; p.(Lys1172*) | 2022 | 35627182 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1025 | OMIA:002165-9685 | domestic cat | Domestic Shorthair (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:g.93615144del | XM_023242950.2c.3423del | XP_023098718.2:p.(L1142Sfs*134) | published as c.3420delG, HGVS 3' rule applied to g. coordinates | 2018 | 30246406 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1466 | OMIA:002165-9685 | domestic cat | Domestic Shorthair (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:g.93620291del | XM_023242950.2:c.3069del | XP_023098718.2:p.(G1024Vfs*50) | published as c.3066del, p.(Gly1023Valfs*50) | 2022 | 35627182 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1609 | OMIA:002165-9685 | domestic cat | Domestic Medium Hair (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:g.93694436T>G | XM_023242950.2:c.504-2A>C | r.spl? | published as c.501-2A>C | 2023 | 37594181 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1464 | OMIA:002165-9685 | domestic cat | Bengal (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | deletion, gross (>20) | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:g.93735408_93735429del | XM_023242950.2:c.115_121+15del | r.spl? | published as c.112_118+15del, Felis_catus_9.0 coordinates previously listed in OMIA as g.93331577_93331598del were incorrect and should have been g.93331575_93331596del (corrected with change to F.catus_Fca126_mat1.0, 22/06/2025) | 2022 | 35627182 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1696 | OMIA:002165-9685 | domestic cat | Maine Coon (Cat) | classical Ehlers-Danlos syndrome | COL5A1 | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fcat126_mat1.0 | D4 | NC_058380.1:g.93561989_93595728del | deletion of 33740 base pairs including the last two exons of COL5A1 | 2024 | 38745376 | ||||||
| 944 | OMIA:001621-9685 | domestic cat | Devon Rex (Cat) Sphynx (Cat) | Muscular dystrophy-dystroglycanopathy (limb-girdle) | COLQ | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C2 | NC_058376.1:g.132511706C>T | XM_003992132.4:c.1190G>A | XP_003992181.2:p.(C397Y) | rs869320615 | 2015 | 26327126 26374066 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1456 | OMIA:002159-9685 | domestic cat | Siberian (Cat) | Extreme sunshine (Siberian recessive extreme wideband) | CORIN | vwb^eSIB | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.165054640G>A | XM_019829551.3:c.839G>A | XP_019685110.2:p.(C280Y) | reported as Genbank ID ON355336 | 2022 | 35574714 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1313 | OMIA:002159-9685 | domestic cat | Siberian (Cat) | Sunshine (golden) | CORIN | vwb^SIB | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.165124736C>T | XM_019829551.3:c.2383C>T | XP_019685110.2:p.(R795C) | 2021 | 33970502 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1463 | OMIA:002159-9685 | domestic cat | British Shorthair (Cat) | Copper (British recessive wideband) | CORIN | vwb^BSH | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.165124778C>T | XM_019829551.3:c.2425C>T | XP_019685110.2:p.(R809*) | 2022 | 35703390 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1428 | OMIA:002533-9685 | domestic cat | Domestic Shorthair (Cat) | Osteogenesis imperfecta | CREB3L1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.98384181_98384182del | XM_003993204.5:c.370_371del | XP_003993253.2:p.(C124Lfs) | published as c.370_371delTG | 2022 | 35168412 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 916 | OMIA:000881-9685 | domestic cat | Abyssinian (Cat) | Rod-cone dysplasia | CRX | Rdy | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E2 | NC_058382.1:g.9492897del | XM_045045412.1:c.546del | XP_044901347.1:p.(P185Lfs*2) | published as CRX: n.546delC; in the Felis_catus_9.0 assembly the CRX gene is duplicated and genomic coordinates in this table are given for a more recent reference genome | 2010 | 20053974 | ||
| 1517 | OMIA:002607-9685 | domestic cat | Domestic Longhair (Cat) | Pyknodysostosis | CTSK | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | NC_058375.1:g.105446558G>A | XM_045033477.1:c.724C>T | XP_044889412.1:p.(R242*) | variant is reported in a single affected cat | 2022 | 36532681 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1155 | OMIA:002131-9685 | domestic cat | Domestic Shorthair (Cat) | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.135602485C>T | XM_045062469.1:c.547G>A | XP_044918404.1:p.(G183S) | published as "p.Gly209Ser amino acid change in transcript CYB5R3-202 (ENSFCAT00000056925) at position B4:137967506", c. and p. coordinates have been updated to reflect recent transcript and protein inforamtion [08/07/2025] | 2019 | 31650629 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1548 | OMIA:002131-9685 | domestic cat | Domestic Shorthair (Cat) | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.135605715C>T | XM_045062469.1:c.226+5G>A | two transcripts were observed in the cat with the splice variant resulting in two predicted protein variants: XP_044918404.1:p.(G76_Q77insERSPDPARVEPG) and XP_044918404.1:p.(V52Afs*58) | 2023 | 37048064 | ||||
| 1156 | OMIA:002131-9685 | domestic cat | Domestic Shorthair (Cat) | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.135605793C>G | XM_045062469.1:c.154-1G>C | published as a splice acceptor variant at c.232-1G>C in the CYB5R3-202 transcript (ENSFCAT00000056925) at position B4:137970815, c. coordinates updated to reflect recent transcript information [08/07/2025] | 2019 | 31650629 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 117 | OMIA:001661-9685 | domestic cat | Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency | CYP11B1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F2 | NC_058385.1:g.81965422G>A | XM_004000154.4:c.1151G>A | XP_004000203.1:p.(R384Q) | published as "a guanosine-to-adenosine mutation in exon 7 that results in an arginine to glutamine amino acid substitution | 2012 | 22827537 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 502 | OMIA:000837-9685 | domestic cat | Domestic Shorthair (Cat) | Vitamin D-deficiency rickets, type IA | CYP27B1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.84034173del | XM_003988966.4:c.731del | XP_003989015.2:p.(R244Pfs*32) | published as c.731delG | 2009 | 19138382 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 315 | OMIA:000837-9685 | domestic cat | Siamese (Cat) | Vitamin D-deficiency rickets, type IA | CYP27B1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.84034267C>A | XM_003988966.4:c.637G>T | XP_003989015.2:p.(E213*) | rs5334475145 | 2012 | 22553308 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1137 | OMIA:002221-9685 | domestic cat | Domestic Shorthair (Cat) | Vitamin D-deficiency rickets, type Ib | CYP2R1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.71033344del | XM_003993015.6:c.1386del | XP_003993064.1:p.(F462Lfs*20) | genomic position in accordance with HGVS 3'-rule | 2019 | 30777056 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1308 | OMIA:001484-9685 | domestic cat | Abyssinian (Cat) Burmese (Cat) Maine Coon (Cat) Oriental Shorthair (Cat) | Ticked | DKK4 | Ti^CK | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.40428846C>T | XM_023252567.2:c.53C>T | XP_023108335.2:p.(A18V) | rs5334475164 | 2021 | 33780570 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1307 | OMIA:001484-9685 | domestic cat | Abyssinian (Cat) | Ticked | DKK4 | Ti^A | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.40429492G>A | XM_023252567.2:c.188G>A | XP_023108335.2:p.(C63Y) | published as g.41621481G>A | rs785541575 | 2021 | 33780570 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. |
| 922 | OMIA:001081-9685 | domestic cat | Domestic Shorthair (Cat) | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | X | A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene | 1994 | 7881288 | ||||||||
| 923 | OMIA:001081-9685 | domestic cat | Domestic Shorthair (Cat) | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | X | A large deletion that "involved regions of the dystrophin gene that are poorly characterized, including the cortical neuronal promoter and its first exon and the skeletal neuronal promoter and its first exon" | 2014 | 24446404 | ||||||||
| 1684 | OMIA:001888-9685 | domestic cat | Kinkalow (Cat) | Muscular dystrophy, X-linked | DMD | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058380.1:g.27099390G>A | XM_045050794.1:c.8467C>T | XP_044906729.1:p.(Q2823*) | likely de novo mutation reported in a single cat | 2024 | 38613437 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1667 | OMIA:001888-9685 | domestic cat | Domestic Shorthair (Cat) | Muscular dystrophy, X-linked | DMD | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.27110574C>T | XM_045050794.1:c.8333G>A | XP_044906729.1:p.(W2778*) | 2024 | 38415938 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1656 | OMIA:001081-9685 | domestic cat | Domestic Shorthair (Cat) | Muscular dystrophy, Duchenne type | DMD | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.27949145C>T | XM_045050794.1:c.4849C>T | XP_044906729.1:p.(Q1617*) | |
2024 | 38180235 | |||
| 1531 | OMIA:001888-9685 | domestic cat | Maine Coon (Cat) | Becker muscular dystrophy | DMD | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.27988938G>A | XM_045050787.1:c.4186C>T | XP_044906722.1:p.(H1396Y) | 2023 | 36834603 | ||||
| 1510 | OMIA:001081-9685 | domestic cat | Maine Coon (Cat) | Muscular dystrophy, Duchenne type | DMD | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.28208148G>A | XM_045050794.1:c.1180C>T | XP_044906729.1:p.(R394*) | rs7111000092 | 2022 | 36359052 | |||
| 125 | OMIA:001776-9685 | domestic cat | Dihydropyrimidinase deficiency | DPYS | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F2 | NC_058385.1:g.49914423C>T | XM_023248231.2:c.1303G>A | XP_023103999.2:p.(G435R) | 2012 | 23430934 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1392 | OMIA:002452-9685 | domestic cat | Domestic Shorthair (Cat) | Hair shaft dysplasia | DSG4 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D3 | NC_058379.1:g.53103168del | XM_019815116.2:c.76del | XP_019670675.2:p.(I26Lfs*4) | 2022 | 34878611 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1393 | OMIA:002452-9685 | domestic cat | Domestic Shorthair (Cat) | Hair shaft dysplasia | DSG4 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D3 | NC_058379.1:g.53124305del | XM_019815116.2:c.1777del | XP_019670675.2:p.(H593Tfs*23) | 2022 | 34878611 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1705 | OMIA:000543-9685 | domestic cat | Domestic Shorthair (Cat) | Hypohidrotic ectodermal dysplasia | EDA | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.57148944G>A | XM_011291781.3:c.1042G>A | XP_011290083.1:p.(A348T) | reported in a single cat | 2024 | 39062633 | |||
| 1439 | OMIA:001457-9685 | domestic cat | Multiple acyl-CoA dehydrogenase deficiency | ETFDH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.69030128A>C | NM_001290236.1:c.692T>G | NP_001277165.1:p.(F231C) | 2014 | 24142280 | Thanks to Heidi Anderson for alerting OMIA to this paper; 31 March 2022. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1467 | OMIA:002554-9685 | domestic cat | Osteochondromatosis (feline leukemia virus-negative) | EXT1 | duplication | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F2 | NC_058385.1:g.61870704dup | XM_023248762.2:c.1468dup | XP_023104530.1:p.(L490Pfs*31) | 2022 | 35719100 | |||||
| 1472 | OMIA:000363-9685 | domestic cat | Maine Coon (Cat) | Factor XI deficiency | F11 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.17127925G>A | XM_003984601.5:c.1546G>A | XP_003984650.2:p.(V516M) | 2022 | 35627175 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 533 | OMIA:000364-9685 | domestic cat | American Shorthair (Cat) Balinese (Cat) Bengal (Cat) Cymric (Cat) Highlander (Cat) Himalayan (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) Manx (Cat) Minuet (Cat) Munchkin (Cat) Munchkin Longhair (Cat) Ragdoll (Cat) Savannah (Cat) Siamese (Cat) Tennessee Rex (Cat) | Factor XII deficiency | F12 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.172794693del | NM_001168212.2:c.1321del | NP_001161684.2:p.(L441Cfs*119) | published as c.1321delC | 2015 | 24793828 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1815 | OMIA:000364-9685 | domestic cat | Factor XII deficiency | F12 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.172795562C>T | NM_001168212.2:c.1549C > T | NP_001161684.2:p.(Q517*) | identified in a single cat | 2019 | 31022435 | ||||
| 147 | OMIA:000364-9685 | domestic cat | Balinese (Cat) Bengal (Cat) Bengal Longhair (Cat) Bombay (Cat) British Shorthair (Cat) Devon Rex (Cat) Domestic Shorthair (Cat) Donskoy (Cat) Elf (Cat) Exotic Shorthair (Cat) Highlander (Cat) Himalayan (Cat) Lykoi (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) Minuet (Cat) Minuet Longhair (Cat) Munchkin (Cat) Munchkin Longhair (Cat) Neva Masquerade (Cat) Oriental Longhair (Cat) Oriental Shorthair (Cat) Persian (Cat) Peterbald (Cat) Ragdoll (Cat) Savannah (Cat) Scottish Fold (Cat) Scottish Fold Longhair (Cat) Scottish Straight (Cat) Scottish Straight Longhair (Cat) Selkirk Rex (Cat) Selkirk Rex Longhair (Cat) Siamese (Cat) Siberian (Cat) Sphynx (Cat) Tennessee Rex (Cat) Turkish Angora (Cat) | Factor XII deficiency | F12 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.172795644G>C | NM_001168212.2:c.1631G>C | NP_001161684.2:p.(G544A) | rs5334475144 | 2017 | 28392508 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1767 | OMIA:000437-9685 | domestic cat | European Shorthair (Cat) | Haemophilia A | F8 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058380.1:g.126881432A>G | XM_004001054.4:c.6073+2T>C | 2024 | 39447565 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 127 | OMIA:000438-9685 | domestic cat | Domestic Longhair (Cat) | Haemophilia B | F9 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.114354785G>A | NM_001009377.3:c.383G>A | NP_001009377.1:p.(C128Y) | published as p.(C82Y); coordinates in the table have been updated to a recent reference genome and / or transcript | 2005 | 15822564 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 310 | OMIA:000438-9685 | domestic cat | Haemophilia B | F9 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.114374368C>T | NM_001009377.3:c.1150C>T | NP_001009377.1:p.(R384*) | published as p.(R338*); coordinates in the table have been updated to a recent reference genome and / or transcript | 2005 | 15822564 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1805 | OMIA:002959-9685 | domestic cat | Russian Blue (Cat) | REM sleep behaviour disorder | FAM8A1 | deletion, gross (>20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.11622168_11622190del | XM_019831563.3:c.485_507de | XP_019687122.3:p.(Q162Pfs*115) | 2025 | 40266280 | ||||
| 613 | OMIA:002064-9685 | domestic cat | British Shorthair (Cat) | Autoimmune lymphoproliferative syndrome | FASLG | duplication | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F1 | NC_058384.1:g.14766775dup | NM_001009352.1:c.418dup | NP_001009352.1:p.(R140Kfs*37) | published as c.413_414insA "insertion of an adenine at position 14,607,400 [Felis_Catus_6.2]" (Aberdein et al., 2017); changed in this table to a recent reference genome and HGVS nomenclature | 2017 | 27770190 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1368 | OMIA:000439-9685 | domestic cat | Maine Coon (Cat) | Long hair | FGF5 | l^MCC2 (M5) | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.139634158C>T | NM_001114546.1:c.577G>A | NP_001108018.1:p.(A193T) | 2021 | 34599367 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 130 | OMIA:000439-9685 | domestic cat | Long hair | FGF5 | l (M4) | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.139634260G>T | NM_001114546.1:c.475A>C | NP_001108018.1:p.(T159P) | published as c.474delT; variant can be in a haplotype with c.474del | rs5334475161 | 2007 | 17433015 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 498 | OMIA:000439-9685 | domestic cat | Maine Coon (Cat) Ragdoll (Cat) | Long hair | FGF5 | l^MCC1 (M3) | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.139634261del | NM_001114546.1:c.474del | published as c.474delT; variant can be in a haplotype with c.475A>C resulting in two different predicted effects on the protein | 2007 | 17433015 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 311 | OMIA:000439-9685 | domestic cat | Norwegian Forest Cat (Cat) | Long hair | FGF5 | l^NFC (M2) | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.139645946G>A | NM_001114546.1:c.406C>T | NP_001108018.1:p.(R136*) | rs5334475123 | 2007 | 17767004 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 595 | OMIA:000439-9685 | domestic cat | Ragdoll (Cat) | Long hair | FGF5 | l^Rag (M1) | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.139653676_139653677insA | NM_001114546.1:c.356_357insT | NP_001108018.1:p.(M119Ifs) | published as c.ins356T | 2007 | 17767004 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1675 | OMIA:001313-9685 | domestic cat | Bengal (Cat) Egyptian Mau (Cat) Toyger (Cat) | Coat texture, glitter | FGFR2 | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D2 | NC_058378.1:g.77479931_77479934insN[585] | a 585-bp cat-specific Endogenous Retroviral Long Terminal Repeat (ERV1-3_FCa-type LTR) element insertion | 2024 | 38531359 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 1319 | OMIA:001949-9685 | domestic cat | Birman (Cat) | Hypotrichosis, with short life expectancy | FOXN1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.18231051_18231054del | XM_019817475.3:c.1030_1033del | XP_019673034.2:p.(L344Gfs) | published as c.1030_1033delCTGT; predicted to cause a frameshift leading to a premature stop codon at position 547 | 2015 | 25781316 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1544 | OMIA:000419-9685 | domestic cat | Domestic Shorthair (Cat) | Glycogen Storage Disease Type II (Pompe Disease) | GAA | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.59338041G>A | XM_006940652.4:c.1799G>A | XP_006940714.4:p.(R600H) | 2023 | 37106898 | The OMIA curators thank Osamu Yamato for providing the variant information not included in Rakib et al. (2023); 17 April 2023. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 742 | OMIA:000420-9685 | domestic cat | Norwegian Forest Cat (Cat) | Glycogen storage disease IV | GBE1 | delins, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C2 | NC_058376.1:g.34574435_34612034delinsN[334] | published as "334 bp insertion at the site of a 6.2 kb deletion that extends from intron 11 to intron 12 (g. IVS11+1552_IVS12-1339 del6.2kb ins334 bp), removing exon 12" | 2007 | 17257876 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 1221 | OMIA:002366-9685 | domestic cat | Toyger (Cat) | Holoprosencephaly | GDF7 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.124327443_124327449del | XM_023252074.2:c.221_227del | XP_023107842.2:p.(R74Pfs*17) | published as "a 7 bp deletion in the coding region of GDF7 (c.221_227delGCCGCGC [p.Arg74Profs*17]) at the position A3:127002233 (ENSFCAT00000063603)" (Yu et al., 2020) | rs5334475136 | 2020 | 32575532 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 126 | OMIA:000402-9685 | domestic cat | Korat (Cat) Siamese (Cat) | Gangliosidosis, GM1 | GLB1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C2 | NC_058376.1:g.156332550C>G | NM_001009860.1:c.1448G>C | NP_001009860.1:p.(R483P) | rs5334475143 | 2008 | 18353697 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 496 | OMIA:001427-9685 | domestic cat | Gangliosidosis, GM2, GM2A deficiency | GM2A | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.195482837_195482840del | XM_003981379.6:c.516_519del | XP_003981428.3:p.(V173Sfs*17) | published as c.516_519delGGTC | 2005 | 16200419 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1035 | OMIA:001248-9685 | domestic cat | Domestic Shorthair (Cat) | Mucolipidosis II | GNPTAB | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.122140618G>A | XM_003989173.6:c.2644C>T | XP_003989222.3:p.(Q882*) | 2018 | 30591066 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 383 | OMIA:000821-9685 | domestic cat | Primary hyperoxaluria type II (Oxalosis II) | GRHPR | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:g.58931559G>A | XM_006939292.4:c.507-1G>A | XP_006939354.1:p.(N169Kfs*46) | "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" | rs5334475152 | 2009 | Reference not in PubMed; see OMIA 000821-9685 for reference details | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 133 | OMIA:000667-9685 | domestic cat | Mucopolysaccharidosis VII | GUSB | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E3 | NC_058383.1:g.16002670G>A | NM_001009310.1:c.1051G>A | NP_001009310.1:p.(E351K) | published as "single G-to-A transition at nucleotide position 1074, predicting a glutamate-to-lysine substitution of amino acid residue 351 (E351K)" | rs5334475137 | 1999 | 10366443 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 139 | OMIA:000667-9685 | domestic cat | Mucopolysaccharidosis VII | GUSB | haplotype | delins (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E3 | NC_058383.1:g.[16005726T>G;16005729C>T] | NM_001009310.1:c.[1423T>G;1426C>T] | NP_001009310.1:p.(S475_R476delinsAW) | published as c.1421T>G and c.1424C>T; coordinates in the table have been updated to a recent reference genome and / or transcript | 2015 | 26118695 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 145 | OMIA:001987-9685 | domestic cat | Japanese Domestic (Cat) | Bobtail | HES7 | JBT | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.2905189A>G | XM_003996191.5:c.5A>G | XP_003996240.1:p.(V2A) | rs5334475119 | 2016 | 27030474 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 497 | OMIA:001462-9685 | domestic cat | Korat (Cat) | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.139024540del | NM_001009333.2:c.40del | NP_001009333.2:p.(L14Sfs*82) | published as c.39delC; g. and c. coordinates updated to reflect HGVS 3' rule | 1994 | 8178934 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 309 | OMIA:001462-9685 | domestic cat | Japanese Domestic (Cat) | Gangliosidosis, GM2, type II (Sandoff or variant 0) | HEXB | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.139048794C>T | NM_001009333.2:c.667C>T | NP_001009333.2:p.(R223*) | 2007 | 16872651 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 381 | OMIA:001462-9685 | domestic cat | Burmese (Cat) | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | deletion, small (<=20) | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.139054716_139054730del | NM_001009333.2:c.1244-8_1250del | r.(spl?) | 2009 | 19231264 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 741 | OMIA:001462-9685 | domestic cat | Domestic Shorthair (Cat) | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | inversion | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.139055474_139055498inv | NM_001009333.2:c.1467_1491inv | NP_001009333.2:p.(F489Lfs*4) | 2004 | 15081585 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 530 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.16579672_16579675del | NM_001177808.1:c.107_110del | NP_001171279.1:p.(D36Vfs*6) | published as c.107_110delACAG | 2013 | 24239138 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 596 | OMIA:001493-9685 | domestic cat | Siamese (Cat) | Porphyria, acute intermittent | HMBS | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.16580212dup | NM_001177808.1:c.189dup | NP_001171279.1:p.(L64Sfs*2) | published as c.189dupT | 2010 | 19934113 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 135 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.16580358G>A | NM_001177808.1:c.250G>A | NP_001171279.1:p.(A84T) | rs5334475139 | 2010 | 19934113 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 136 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.16581286C>T | NM_001177808.1:c.445C>T | NP_001171279.1:p.(R149W) | rs5334475165 | 2010 | 19934113 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 402 | OMIA:001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.16583320G>A | NM_001177808.1:c.826-1G>A | rs5334475129 | 2013 | 24239138 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 501 | OMIA:001493-9685 | domestic cat | Siamese (Cat) | Porphyria, acute intermittent | HMBS | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.16583337_16583339del | NM_001177808.1:c.842_844del | NP_001171279.1:p.(G281del) | published as c.842_844delGAG | 2010 | 19934113 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1423 | OMIA:002116-9685 | domestic cat | Donskoy (Cat) | Pink-eye | HPS5 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.74250261C>T | XM_023239634.2:c.2571-1G>A | 2020 | 32558164 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1222 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^TN | duplication | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.35878965_35878966dupGT | XM_023252512.2:c.1255_1256dup | XP_023108280.2:p.(Q420Sfs*100) | published as c.1255_1256dupGT | 2020 | 32580512 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1224 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^Fr | delins, small (<=20) | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.35879114delinsCAG | XM_023252512.2:c.1402+2delinsCAG | published as c.1404+2delTinsCAG; changed to HGVS nomenclature and recent transcript information in this table; "This variant should extend and change the reading frame, including an additional 24 amino acids in the aberrant protein before a stop codon is recognized. Alternatively, a cryptic splice site may be used from within intron 4." (Buckley et al., 2020) | 2020 | 32580512 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1225 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^TX | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.35883950G>A | XM_023252512.2:c.2112G>A | "This variant likely disrupts the splice donor allowing read-through for an additional 12 amino acids until a stop codon is encountered .... Alternatively, a cryptic splice site may be used from within intron 8." (Buckley et al., 2020) | rs5334475128 | 2020 | 32580512 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1226 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^NC | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.35885221C>T | XM_023252512.2:c.2239C>T | XP_023108280.2:p.(R747*) | previously listed as c.2243C>T, p.(R748*) - updated to reflect recent transcript information [12/07/2025] | rs5334475155 | 2020 | 32580512 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. |
| 1227 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^Ca | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.35885692C>T | XM_023252512.2:c.2593C>T | XP_023108280.2:p.(Q865*) | rs5334475120 | 2020 | 32580512 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1223 | OMIA:002229-9685 | domestic cat | Lykoi (Cat) | Hypotrichia and Roaning | HR | hr^VA | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.35889728_35889729insGACA | XM_023252512.2:c.3389_3390insGACA | XP_023108280.2:p.(S1130Rfs*29) | ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as g.36051555insGACA and c.3389insGACA; changed to reflect HGVS nomenclature in this table | 2020 | 32580512 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 500 | OMIA:000664-9685 | domestic cat | Domestic Shorthair (Cat) | Mucopolysaccharidosis I | IDUA | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.204935473_204935475del | NM_001305032.1:c.1041_1043del | NP_001291961.1:p.(D348del) | a 3 bp deletion in the IDUA gene; previously listed as c.1042_1044del updated to recent transcript [09/07/2025] | 1999 | 10356309 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1245 | OMIA:001000-9685 | domestic cat | Domestic Shorthair (Cat) | Glanzmann's thrombasthenia | ITGA2B | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.42487303del | XM_003996987.6:c.1839del | XP_003997036.4:p.(P613fs) | published as c.1986delC; p.Pro662fs (Li et al., 2020), previously listed here as Felis_catus 9.0 g.44416063del; coordinates updated to reflect HGVS 3' rule and recent reference genome and transcript [07/07/2025] | rs5334475153 | 2020 | 32935881 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1809 | OMIA:001000-9685 | domestic cat | Domestic Shorthair (Cat) | Thrombasthenia | ITGA2B | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | Felis_catus 9.0 | E1 | NC_018736.3:g:44416063_44416064insGG | XM_003996987.5:c.1839_1840insCC | XP_003997036.3:p.(E614fs) | Published as ENSFCAT00000003056.6:c.1986_1987insCC | 2024 | 38426552 | |||
| 775 | OMIA:000595-9685 | domestic cat | Leukocyte adhesion deficiency, type I | ITGB2 | ITGB-2 missing exon 2 | deletion, gross (>20) | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C2 | NC_058376.1:g.1764454_1764477del | XM_045036502.1:c.46_58+11del | Bauer et al. (2017) "24 bp deletion at the exon 2 to intron 2 boundary (c.46_58 + 11del), predicting premature translational termination due to abnormal splicing of exon 1 to exon 3 or 4 | 2017 | 28750142 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1191 | OMIA:002267-9685 | domestic cat | Bengal (Cat) Highlander (Cat) Highlander Shorthair (Cat) Savannah (Cat) | Progressive retinal atrophy | KIF3B | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.26520830C>T | XM_006929856.5:c.1000G>A | XP_006929918.1:p.(A334T) | rs5334475117 | 2020 | 32386558 | The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Additional breeds reported based on PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1695 | OMIA:001737-9685 | domestic cat | Coat colour, salmiak | KIT | w^sal | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.161142882_161237957del | a novel 94 991 bp deletion in the 65875 bp downstream region of the KIT gene | 2024 | 38721753 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 620 | OMIA:001580-9685 | domestic cat | Birman (Cat) | Feet white (gloving) | KIT | g | delins, small (<=20) | delins (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.161337385_161337386deinsTG | NM_001009837.3:c.1035_1036delinsCA | NP_001009837.3:p.(E345_H346delinsDN) | Montague et al. (2014) describe this variant as "two adjacent missense mutations". | 2010 | 21147473 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 994 | OMIA:000209-9685 | domestic cat | Domestic Longhair (Cat) | Coat colour, dominant white | KIT | W | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.161388687_161388688insN[617] | published as "a FERV1 long terminal repeat (LTR) is associated with all Dominant White individuals" | 2014 | 25085922 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 732 | OMIA:001737-9685 | domestic cat | Coat colour, white spotting, KIT-related | KIT | S | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.161388687_161388688insN[7125] | "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." | 2014 | 25085922 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 1229 | OMIA:002281-9685 | domestic cat | Domestic Shorthair (Cat) | Epidermolysis bullosa, simplex, KRT14-related | KRT14 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.40385540G>A | XM_003996860.6:c.979C>T | XP_003996909.3:p.(Q327*) | 2020 | 32657488 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 382 | OMIA:001583-9685 | domestic cat | Sphynx (Cat) | Sphynx hairless | KRT71 | Re^HR | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.78941699C>T | NM_001195239.1:c.816+1G>A | rs5334475135 | 2010 | 20953787 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 394 | OMIA:001712-9685 | domestic cat | Selkirk Rex (Cat) | Curly coat, Selkirk rex | KRT71 | Re^S | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.78943283C>G | NM_001195239.1:c.445-1G>C | 2013 | 23770706 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 380 | OMIA:001581-9685 | domestic cat | Devon Rex (Cat) | Curly coat, Devon rex | KRT71 | re | haplotype | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.[78939377_78939378insA;78939389_78939390insCTCCAACT;78939390_78939470del] | NM_001195239.1:c.[1108-4_1184del;1184_1185insAGTTGGAG;1196_1197insT] | 2010 | 20953787 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1317 | OMIA:001371-9685 | domestic cat | Domestic Longhair (Cat) | L-2-hydroxyglutaric aciduria | L2HGDH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B3 | NC_058373.1:g.97844907T>C | XM_023255678.2:c.1301A>G | XP_023111446.2:p.(H434R) | rs5334475154 | 2021 | 34062805 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1535 | OMIA:001371-9685 | domestic cat | Domestic Shorthair (Cat) | L-2-hydroxyglutaricacidemia | L2HGDH | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B3 | NC_058373.1:g.97881395G>A | XM_023255679.2:c.397C>T | XP_023111447.2:p.(Q133*) | 2023 | 36880414 | ||||
| 1817 | OMIA:000499-9685 | domestic cat | Korat (Cat) | Hypercholesterolaemia | LDLR | substitution | nonsense (stop-gain) | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1:g.8410638G>A | XM_003981898.6:c.2406G>A | XP_003981947.3:p.(W758*) | 2024 | Reference not in PubMed; see OMIA 000499-9685 for reference details | |||||
| 1203 | OMIA:002273-9685 | domestic cat | Ural Rex (Cat) | Curly coat, Ural Rex | LIPH | urx | delins, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C2 | NC_058376.1:g.81753670_81753676delinsC | XM_019840031.3:c.477_483delinsC | XP_019695590.2:p.(S160_G161del) | changed from c.478_483del to c.477_483delinsC in accordance with HGVS nomenclature [17/2/2022] | 2020 | 32463158 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 649 | OMIA:002389-9685 | domestic cat | Highlander (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) | Spinal muscular atrophy | LIX1 | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.159254616_159394886del | published as "a ~140 kb deletion removing exons 4-6 of LIX1 and all except exon 1 of LNPEP" | 2006 | 16899656 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 434 | OMIA:000810-9685 | domestic cat | Polydactyly | LMBR1 | Pd^UK2 | substitution | regulatory | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1:g.167522322T>A | regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACACAG[A/T]AATGAG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 433 | OMIA:000810-9685 | domestic cat | Polydactyly | LMBR1 | Pd^UK1 | substitution | regulatory | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1:g.167522546C>G | regulatory variant in the ZPA regulatory sequence (ZRS); published as CC[G/C]GTG | 2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 432 | OMIA:000810-9685 | domestic cat | Maine Coon (Cat) | Polydactyly | LMBR1 | Pd^Hw | substitution | regulatory | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1g.167522324T>C | regulatory variant in the ZPA regulatory sequence (ZRS); published as AGACAC[A/G]GAAATGAG |
2008 | 18156157 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 522 | OMIA:001684-9685 | domestic cat | Cornish Rex (Cat) German Rex (Cat) | Curly/woolly coat, Cornish Rex and German Rex | LPAR6 | r | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.22865220_22865223del | NM_001309049.1:c.250_253del | NP_001295978.1:p.(F84Efs*9) | c.250_253delTTTG | 2013 | 23826204 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 131 | OMIA:001210-9685 | domestic cat | Hyperlipoproteinaemia | LPL | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.37910025C>T | NM_001042567.1:c.1315G>A | NP_001036032.1:p.(G439R) | published as c.1234G>A and p.(G412R); coordinates in the table have been updated to a recent reference genome and / or transcript | 1996 | 8636438 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 610 | OMIA:002017-9685 | domestic cat | Siamese (Cat) | Glaucoma 3, primary congenita | LTBP2 | duplication | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B3 | NC_058373.1:g.119460393_119460396dup | XM_023255858.2:1431_1434dup | XP_023111626.2:p.(A479Gfs) | published as "a 4-bp insertion in exon 8 located at chrB3: 120995236"[felCat5], previous listed as c.1449_1452dup, p.(A485Gfs) - updated to recent transcript [12/07/2025] | 2016 | 27149523 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1394 | OMIA:002485-9685 | domestic cat | British Shorthair (Cat) | Skeletal dysplasia, LTBP3-related | LTBP3 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.108455125del | XM_023240055.2:c.158del | XP_023095823.2:p.(G53Afs*16) | genomic coordinates updated to reflect HGVS 3'-rule [12/07/2025] | 2021 | 34946872 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 307 | OMIA:001429-9685 | domestic cat | Blotched tabby | LVRN | Ta^b2 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.94477275C>A | XM_045057766.1:c.176C>A | XP_044913701.1:p.(S59*) | 2012 | 22997338 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1429 | OMIA:001429-9685 | domestic cat | Tabby, atypical swirl | LVRN | Ta^as | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.94477515A>C | XM_045057763.1: c.416A>C | XP_044913698.1:p.(T139N) | associated with an atypical swirled pattern but is incompletely penetrant. F.catus_Fca126_mat1.0 reference sequence represents the C allele / p.(N139T) | 2012 | 22997338 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 124 | OMIA:001429-9685 | domestic cat | Blotched tabby | LVRN | Ta^b1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.94477781G>A | XM_045057766.1:c.682G>A | XP_044913701.1:p.(D228N) | 2012 | 22997338 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 308 | OMIA:001429-9685 | domestic cat | Blotched tabby | LVRN | Ta^b3 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A1 | NC_058368.1:g.94536796G>A | XM_045057763.1:c.2522G>A | XP_044913698.1:p.(W841*) | Felis_catus_9.0 represents the A allele | 2012 | 22997338 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1147 | OMIA:000185-9685 | domestic cat | Persian (Cat) | Chediak-Higashi disease | LYST | repeat variation | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D2 | NC_058378.1:g.13064245_13083649dup | NM_001290242.1:c.8347-2422_9548+1749dup | a tandem segmental duplication encompassing exons 30 through to 38 | 2020 | 31919397 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 499 | OMIA:000625-9685 | domestic cat | Persian (Cat) | Mannosidosis, alpha | MAN2B1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A2 | NC_058369.1:g.8955977_8955980del | NM_001009222.1:c.1749_1752del | NP_001009222.1:p.(Q584Afs) | 1997 | 9396732 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1636 | OMIA:000626-9685 | domestic cat | Domestic Shorthair (Cat) | Mannosidosis, beta | MANBA | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.119398498G>A | XM_023252901.2:c.2509G>A | XP_023108669.2:p.(G837R) | variant was reported in a single affected cat, previously listed as c.2506G>A, p.(G836R) - updated to recent transcript information [11/07/2025] | 2024 | 37913889 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 123 | OMIA:001199-9685 | domestic cat | Norwegian Forest Cat (Cat) | Coat colour, amber | MC1R | e | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E2 | NC_058382.1:g.61570294G>A | NM_001009324.1:c.250G>A | NP_001009324.1:p.(D84N) | rs5334475156 | 2009 | 19422360 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 561 | OMIA:001199-9685 | domestic cat | Burmese (Cat) | Coat colour, russet | MC1R | e^r | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E2 | NC_058382.1:g.61570484_61570486del | NM_001009324.1:c.440_442del | NP_001009324.1:p.(F147del) | published as c.439_441del and p.(F146del); coordinates in the table have been updated to a recent reference genome and / or transcript. | 2017 | 27671997 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1090 | OMIA:001199-9685 | domestic cat | Kurilian Bobtail (Cat) | Coat colour, copal | MC1R | e^c | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E2 | NC_058382.1:g.61570684_61570713del | NM_001009324.1:c.640_669del | NP_001009324.1:p.(A214_R223del) | 2019 | 31361350 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1148 | OMIA:001962-9685 | domestic cat | Domestic Shorthair (Cat) | Neuronal ceroid lipofuscinosis, 7 | MFSD8 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.96630789del | XM_045055884.1:c.780del | XP_044911819.1:p.(Q262Kfs*33) | published as c.780delT | 2020 | 31860737 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 495 | OMIA:000031-9685 | domestic cat | Coat colour, dilute | MLPH | d | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | NC_058375.1:g.218197448del | NM_001079655.1:c.83del | NP_001073123.1:p.(L28Rfs*12) | rs5334475121 | 2006 | 16860533 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1475 | OMIA:001508-9685 | domestic cat | Maine Coon (Cat) | Myotubular myopathy 1 | MTM1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.122964931C>T | XM_023249466.2:c.455C>T | XP_023105234.1:p.(A152V) | 2022 | 35962713 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 902 | OMIA:002951-9685 | domestic cat | American Bobtail (Cat) American Bobtail Shorthair (Cat) Highlander (Cat) Munchkin (Cat) Ragamuffin (Cat) Ragdoll (Cat) | Cardiomyopathy, hypertrophic | MYBPC3 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.99269394C>T | XM_019812397.2:c.2453C>T | XP_019667956.2:p.(R818W) | published as p.(R820W); coordinates in the table have been updated to a recent reference genome and / or transcript | 2007 | 17521870 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 901 | OMIA:002952-9685 | domestic cat | Maine Coon (Cat) Maine Coon Polydactyl (Cat) Munchkin (Cat) Pixiebob Longhair (Cat) Ragdoll (Cat) Scottish Fold (Cat) Siberian (Cat) | Cardiomyopathy, hypertrophic | MYBPC3 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.99280283C>G | XM_019812397.2:c.91G>C | XP_019667956.2:p.(A31P) | variant initially reported in Main Coon cats and in a later study (Akiyama et al., 2023) identified in other breeds. | 2005 | 16236761 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088 and 38371598. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1121 | OMIA:002212-9685 | domestic cat | Domestic Shorthair (Cat) | Cardiomyopathy, hypertrophic, MYH7-related | MYH7 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B3 | NC_058373.1:g.73871470C>T | XM_006932746.5:c.5647G>A | XP_006932808.1:p.(E1883K) | rs3166775194 | 2019 | 31164718 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 134 | OMIA:000725-9685 | domestic cat | Domestic Shorthair (Cat) | Niemann-Pick disease, type C1 | NPC1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D3 | NC_058379.1:g.46059888C>G | NM_001009829.2:c.2864G>C | NP_001009829.2:p.(C955S) | rs5334475149 | 2003 | 12809639 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 146 | OMIA:000725-9685 | domestic cat | Domestic Shorthair (Cat) | Niemann-Pick disease, type C1 | NPC1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D3 | NC_058379.1:g.46075921T>G | NM_001009829.2:c.1322A>C | NP_001009829.2:p.(H441P) | rs5334475146 | 2017 | 28233346 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1572 | OMIA:002065-9685 | domestic cat | Japanese Domestic (Cat) Siamese (Cat) | Niemann-Pick disease, type C2 | NPC2 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B3 | NC_058373.1:g.119395559C>T | XM_003987833.6:c.367G>A | XP_003987882.1:p.(V126M) | Changed from g.121865210G>A to NC_018728.3:g.121865210C>T [09/06/2025] | 2023 | 37458497 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 420 | OMIA:002065-9685 | domestic cat | Niemann-Pick disease, type C2 | NPC2 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B3 | NC_058373.1:g.119403305C>T | XM_003987833.6:c.82+5G>A | XP_003987882.1:p.(G28_S29ins35) | rs5334475124 | 2014 | 25396745 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1055 | OMIA:002117-9685 | domestic cat | Domestic Shorthair (Cat) | Inflammatory linear verrucous epidermal nevi | NSDHL | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.124922544A>G | XM_004000985.6:c.397A>G | XP_004001034.1:p.(S133G) | 2019 | 30474267 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1659 | OMIA:001688-9685 | domestic cat | Maine Coon (Cat) | Blue eye colour, dominant | PAX3 | DBE^RE | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | NC_051841.1:g.205787310G>A | XM_019838731.3:c.937C>T | XP_019694290.1:p.(Q313*) | 2024 | 38869246 | |||
| 1685 | OMIA:001688-9685 | domestic cat | Celestial (Cat) Maine Coon (Cat) Siberian (Cat) | Blue eye colour, dominant | PAX3 | DBE^CEL | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | NC_058375.1:g.205833101_205833102insN[395] | 2024 | 38644700 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 1704 | OMIA:001688-9685 | domestic cat | Altai (Cat) British Longhair (Cat) British Shorthair (Cat) Persian (Cat) Ragdoll (Cat) Sphynx (Cat) | Blue eye colour, dominant | PAX3 | DBE^ALT | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | NC_058375.1:g.205834854_205834855insN[433] | 2024 | 38997957 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 1811 | OMIA:001688-9685 | domestic cat | Maine Coon (Cat) | Blue eye colour, dominant | PAX3 | DBE^AGO | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | Felis_catus 9.0 | C1 | NC_018730.3:g.207001835del | XM_011285657.3:c.160del | XP_011283959.1:p.(H54Tfs*108) | 2025 | 40459211 | |||
| 1278 | OMIA:002303-9685 | domestic cat | Cerebral dysgenesis | PEA15 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F1 | NC_058384.1:64395109del | XM_045049170.1:c.176del | XP_044905105.1:p.(N59Tfs*29) | published as felCat9 chrF1:66768323 GT -> G; c.176delA by Graff et al. (2020) | rs5334475160 | 2020 | 33290415 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1610 | OMIA:000807-9685 | domestic cat | Scottish Fold (Cat) | Polycystic kidney disease | PKD1 | delins, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E3 | NC_058383.1:g.39421688del | XM_023247051.2 c.4923del | XP_023102819.2 p.(G1641fs) | variant reported in a single cat, published as c.5250delC/p.(G1641fs) - updated to recent transcript information [11/07/2025] | 2023 | 37489504 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1611 | OMIA:000807-9685 | domestic cat | American Shorthair (Cat) | Polycystic kidney disease | PKD1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E3 | NC_058383.1:g.39423246C>T | XM_023247051.2:c.6481C>T | XP_023102819.2:p.(R2161W) | variant reported in a single cat, published as c.6808C>T, p.(R2162W) - updated to recent transcript information [11/07/2025] | 2023 | 37489504 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 314 | OMIA:000807-9685 | domestic cat | American Shorthair (Cat) Exotic Shorthair (Cat) Himalayan (Cat) Maine Coon (Cat) Munchkin (Cat) Persian (Cat) Ragdoll (Cat) Scottish Fold (Cat) Scottish Straight (Cat) Siberian (Cat) Sphynx (Cat) | Polycystic kidney disease | PKD1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E3 | NC_058383.1:g.39431089C>A | XM_023247051.2:c.9864C>A | XP_023102819.2:p.(C3288*) | This variant was published as c.10063C>A, p.(C3284*) and was previously listed here as c.9882C>A/p.(C3294*) - updated to recent transcript information [11/07/2025] | rs5334475162 | 2004 | 15466259 | The varaint has been initially identified in Persian cats but has since been reported in other breeds, e.g. PMID:31155548; PMID:37489504; PMID:35709088; PMID:39486512. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1424 | OMIA:002525-9685 | domestic cat | Siberian (Cat) | Polycystic kidney disease 2 | PKD2 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.132521077del | XM_011281830.4:c.2211del | XP_011280132.2:(p.K737Nfs*2) | published as c.2211delG | 2021 | 33785770 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 899 | OMIA:000844-9685 | domestic cat | Abyssinian (Cat) Bengal (Cat) Caracal (Cat) Chausie (Cat) Egyptian Mau (Cat) European Shorthair (Cat) Highlander (Cat) Highlander Shorthair (Cat) LaPerm (Cat) Lykoi (Cat) Maine Coon (Cat) Maine Coon Polydactyl (Cat) Minuet Longhair (Cat) Munchkin (Cat) Neva Masquerade (Cat) Norwegian Forest Cat (Cat) Pixiebob Longhair (Cat) Savannah (Cat) Siberian (Cat) Singapura (Cat) Toyger (Cat) | Pyruvate kinase deficiency of erythrocyte | PKLR | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F1 | NC_058384.1:g.67876039G>A | XM_023247386.2:c.707-53G>A | XM_023247386.1:c.707-53G>A; published as c.693+304G>A | rs5334475134 | 2012 | 23110753 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770); Grahn et al. (2012) reported that the variant is present in many breeds and suggested genotyping in Bengals, Egyptian Maus, La Perms, Maine Coon cats, Norwegian Forest cats, Savannahs, Siberians, and Singapuras. Additional breeds reported based on PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1377 | OMIA:002469-9685 | domestic cat | Retinopathy | RDH5 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.82298824G>T | XM_019835050.2:c.542G>T | XP_019690609.1:p.(G181V) | 2021 | 34726233 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1354 | OMIA:000593-9685 | domestic cat | Turkish Van (Cat) | Acrodermatitis enteropathica | SLC39A4 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F2 | NC_058385.1:g.83034002C>G | XM_004000173.4:c.1057G>C | XP_004000222.2:p.(G353R) | rs5334475163 | 2021 | 34573291 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 141 | OMIA:000256-9685 | domestic cat | Domestic Shorthair (Cat) | Cystinuria, type I - A | SLC3A1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.64071673C>T | XM_003983937.6:c.1342C>T | XP_003983986.3:p.(R448W) | rs5334475150 | 2015 | 25417848 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 142 | OMIA:002023-9685 | domestic cat | Cystinuria, type B | SLC7A9 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E2 | NC_058382.1:g.20068434G>A | XM_045046541.1:c.706G>A | XP_044902476.1:p.(D236N) | 2016 | 27404572 | Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 143 | OMIA:002023-9685 | domestic cat | Maine Coon (Cat) Maine Coon Polydactyl (Cat) Siamese (Cat) Siberian (Cat) Sphynx (Cat) | Cystinuria, type B | SLC7A9 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E2 | NC_058382.1:g.20069793T>A | XM_045046541.1:c.881T>A | XP_044902476.1:p.(V294E) | 2016 | 27404572 | Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant. Additional breeds reported based on PMID:35709088. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 144 | OMIA:002023-9685 | domestic cat | Cystinuria, type B | SLC7A9 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E2 | NC_058382.1:g.20078992C>T | XM_045046541.1:c.1175C>T | XP_044902476.1:p.(T392M) | 2016 | 27404572 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1193 | OMIA:001795-9685 | domestic cat | Niemann-Pick disease, type A | SMPD1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.63262260G>A | XM_045038859.1:c.1017G>A | XP_044894794.1:p.(W339*) | 2020 | 32347185 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||||
| 1546 | OMIA:002669-9685 | domestic cat | Domestic Shorthair (Cat) | Sebaceous gland dysplasia | SOAT1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | F1 | NC_058384.1:g.20914140G>A | XM_011291017.4:c.1531G>A | XP_011289319.1:p.(G511R) | 2023 | 37060467 | ||||
| 1425 | OMIA:002526-9685 | domestic cat | Alimentary lymphoma, inducer of | STAT5B | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.40866763T>G | XM_045044630.1:c.1924A>C | XP_044900565.1:p.(N642H) | SOMATIC MUTATION | 2021 | 34680385 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1132 | OMIA:002219-9685 | domestic cat | Domestic Shorthair (Cat) | Hypogonadotropic hypogonadism, TAC3-related | TAC3 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.83380534C>T | XM_003988924.6:c.220G>A | XP_003988973.1:p.(V74M) | 2019 | 31615056 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 650 | OMIA:001617-9685 | domestic cat | Sweet taste, lack of | TAS1R2 | reference sequence allele | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | F.catus_Fca126_mat1.0 | the TAS1R2 gene in cats, tigers and cheetahs has "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6 ... cat Tas1r2 is an unexpressed pseudogene" | 2005 | 16103917 | |||||||
| 525 | OMIA:000975-9685 | domestic cat | American Bobtail (Cat) Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^4 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.148707058del | XM_003986708.4:c.1196del | XP_003986757.2:p.(P399Rfs*26) | published as c.1199delC and p.(P400Rfs*26); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule | 2013 | 23949773 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 524 | OMIA:000975-9685 | domestic cat | Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^3 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.148707087del | XM_003986708.4:c.1166del | XP_003986757.2:p.(P389Rfs*36) | published as c.1169delC and p.(P390Rfs*36); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule | 2013 | 23949773 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 523 | OMIA:000975-9685 | domestic cat | American Bobtail (Cat) Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.148709037del | XM_003986708.4:c.995del | XP_003986757.2:p.(L332Pfs*22) | published as c.998delT and p.(L333Pfs*22); coordinates in the table have been updated to a recent reference genome and / or transcript | 2013 | 23949773 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 623 | OMIA:000975-9685 | domestic cat | Manx (Cat) Pixiebob (Cat) | Tail, short | TBXT | MX^2 | delins, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B2 | NC_058372.1:g.[148709018_148709020del;148709021_148709037dup] | XM_003986708.4:c.[995_1011dup;1011_1014del] | XP_003986757.2:p.(A338Sfs*21) | published as c.998_1014dup17delGCC and p.(A339Sfs*21); coordinates in the table have been updated to a recent reference genome and / or transcript | 2013 | 23949773 | Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 138 | OMIA:000536-9685 | domestic cat | Domestic Shorthair (Cat) | Hypothyroidism | TPO | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.139582244C>T | XM_045055112.1:c.1418G>A | XP_044911047.1:p.(A473T) | c. and p. previously listed as XM_006930524.4:c.1333G>A, XP_006930586.2:p.(A445T) - updated to recent NCBI transcript [09/07/2025] | 2015 | Reference not in PubMed; see OMIA 000536-9685 for reference details | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1485 | OMIA:000536-9685 | domestic cat | British Shorthair (Cat) Domestic Longhair (Cat) Domestic Medium Hair (Cat) Domestic Shorthair (Cat) Russian Blue (Cat) | Hypothyroidism | TPO | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.139592392C>T | XM_045055112.1:c.514G>A | XP_044911047.1:p.(G172R) | c. and p. previously listed as XM_006930524.4:c.430G>A, XP_006930586.2:p.(G144R) - updated to recent NCBI transcript [09/07/2025] | 2022 | 36054182 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 140 | OMIA:000319-9685 | domestic cat | Scottish Fold (Cat) Scottish Fold Longhair (Cat) | Ears, folded | TRPV4 | Fd | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D3 | NC_058379.1:g.18723951C>A | XM_023241517.2:c.1024G>T | XP_023097285.2:p.(V342F) | 2016 | 27063440 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 349 | OMIA:000202-9685 | domestic cat | Albinism | TYR | c^2 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:43927287G>A | XM_045038634.1:c.1204C>T | XP_044894569.1:p.(R402*) | |
rs5334475126 | 2017 | 27634063 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 1024 | OMIA:000202-9685 | domestic cat | Burmese (Cat) | Mocha | TYR | c^m | duplication | delins (in-frame) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:44012836_44012998dup | XM_045038634.1:c.820_936delinsAATCTC | XP_044894569.1:p.(I274_L312delinsNL) | published as NC_018732.3:chromosome D1:45898609_45898771dup, c.820_936delinsAATCTC (p.I274_L312delinsNL) | 2019 | 30716167 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 122 | OMIA:000202-9685 | domestic cat | Siamese (Cat) | Siamese coat colour pattern | TYR | c^s | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:44013031C>T | XM_045038634.1:c.904G>A | XP_044894569.1:p.(G302R) | published as c. 940G>A and p.(G302R) by Lyons et al. (2005) and p.(G301R) by Schmidt-Küntzel et al. (2005) | 2005 | 15771720 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |
| 494 | OMIA:000202-9685 | domestic cat | Coat colour, complete albinism | TYR | c | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.44012999del | XM_045038634.1:c.939del | XP_044894569.1:p.(S314Pfs*9) | published as "a cytosine deletion in TYR at position 975 in exon 2", HGVS 3' rule applied to g. coordinates | 2006 | 16573534 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 121 | OMIA:000202-9685 | domestic cat | Burmese (Cat) | Burmese coat colour pattern | TYR | c^b | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D1 | NC_058377.1:g.44022819C>A | XM_045038634.1:c.679G>T | XP_044894569.1:p.(G227W) | Felis_catus_6.2: g.46406472C>A, Felis_catus 9.0: g.45907839C>A | rs5334475127 | 2005 | 15771720 | The genomic location on Felis_catus_9.0 and transcript information was based on Rodney et al. 2021 (PMID: 33785770). Updated to F.catus_Fca126_mat1.0 by Bella Bartner. |
| 379 | OMIA:001249-9685 | domestic cat | Chocolate | TYRP1 | b | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:38142265G>A | NM_001042560.2:c.1261+5G>A | based on Lyons et al. (2005): c.1261+5G>A; based on Schmidt-Küntzel et al. (2005) this splice variant results in c.1261_1262insN[51^54]; p.(A420_D421insX[17^18]) and is inherited together with g.40068871C>G / c.8C>G / p.(A3G); F.catus_Fca126_mat1.0 and NM_001042560.2 represent the A allele | 2005 | 16104383 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 306 | OMIA:001249-9685 | domestic cat | Cinnamon (light brown) | TYRP1 | b^l | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D4 | NC_058380.1:g.38130163C>T | NM_001042560.2:c.298C>T | NP_001036025.2:p.(R100*) | Felis_catus_9.0 reference sequence represents the T allele | 2005 | 16104383 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 1228 | OMIA:002541-9685 | domestic cat | Munchkin (Cat) | Munchkin standard | UGDH | delins, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B1 | NC_058371.1:g.172171181_172174505delinsN[108] | Felis catus 9.0:NC_018726.3:g.174882895_174886198delins108 (Struck et al., 2020) | 2020 | 32605545 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||||
| 740 | OMIA:001586-9685 | domestic cat | Deficient acetaminophen glucuronidation | UGT1A6 | reference sequence allele | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | C1 | F.catus_Fca126_mat1.0 | "sequencing of the entire UGT1A6 exon 1 coding region revealed five deleterious genetic mutations ... [in cats] UGT1A6 is a pseudogene". UGT1A6 is a pseudogene in all cats - not to be used for diagnostic testing | 2000 | 10862526 | |||||||
| 137 | OMIA:001175-9685 | domestic cat | Domestic Shorthair (Cat) | Porphyria, congenital erythropoietic | UROS | haplotype | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | D2 | NC_058378.1:g.[81231649C>T;81246195G>A] | XM_003994514.5:c.[140C>T;331G>A] | XP_003994563.1:p.[(S47F);(G111S)] | 2010 | 20485863 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1586 | OMIA:001431-9685 | domestic cat | Domestic Longhair (Cat) | Vitamin D-dependent rickets type 2 | VDR | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.74684169del | XM_019834851.3:c.106del | XP_019690410.2:p.(R36Efs*18) | published as c.106delC |
2023 | 37387221 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | ||
| 312 | OMIA:001759-9685 | domestic cat | Burmese (Cat) | Hypokalaemic periodic paralysis | WNK4 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | E1 | NC_058381.1:g.41327499C>T | XM_019817924.3:c.2899C>T | XP_019673483.1:p.(Q967*) | 2012 | 23285264 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. | |||
| 1541 | OMIA:002445-9685 | domestic cat | Domestic Shorthair (Cat) | Xanthinuria, type 1 | XDH | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | A3 | NC_058370.1:g.114863284C>T | NM_001009217.1:c.2042C>T | NP_001009217.1:p.(A681V) | Corrected genomic coordinates from g.114863284C>T to (Felis_catus_9.0) NC_018725.3:g.117584799C>T [09/05/2025] | 2023 | 36970934 | Updated to F.catus_Fca126_mat1.0 by Bella Bartner. |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
| Overall Statistics | |
|---|---|
| Total number of variants | 205 |
| Variants with genomic location | 203 (99.0% ) |
| Variants in a variant database, i.e. with rs ID | 45 (22.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| deletion, gross (>20) | 9 | 4.4% |
| deletion, small (<=20) | 41 | 20.0% |
| delins, gross (>20) | 2 | 1.0% |
| delins, small (<=20) | 6 | 2.9% |
| duplication | 5 | 2.4% |
| haplotype | 3 | 1.5% |
| insertion, gross (>20) | 5 | 2.4% |
| insertion, small (<=20) | 5 | 2.4% |
| inversion | 1 | 0.5% |
| reference sequence allele | 2 | 1.0% |
| repeat variation | 1 | 0.5% |
| substitution | 125 | 61.0% |
| Variant Effect | Count | Percent |
|---|---|---|
| deletion (in-frame) | 6 | 2.9% |
| delins (in-frame) | 3 | 1.5% |
| frameshift | 45 | 22.0% |
| missense | 77 | 37.6% |
| nonsense (stop-gain) | 29 | 14.1% |
| regulatory | 5 | 2.4% |
| splicing | 22 | 10.7% |
| unknown | 18 | 8.8% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1994 | 2 | 1.0% |
| 1995 | 0 | 0.0% |
| 1996 | 2 | 1.0% |
| 1997 | 1 | 0.5% |
| 1998 | 1 | 0.5% |
| 1999 | 2 | 1.0% |
| 2000 | 1 | 0.5% |
| 2001 | 0 | 0.0% |
| 2002 | 0 | 0.0% |
| 2003 | 2 | 1.0% |
| 2004 | 2 | 1.0% |
| 2005 | 9 | 4.4% |
| 2006 | 3 | 1.5% |
| 2007 | 14 | 6.8% |
| 2008 | 4 | 2.0% |
| 2009 | 4 | 2.0% |
| 2010 | 9 | 4.4% |
| 2011 | 0 | 0.0% |
| 2012 | 9 | 4.4% |
| 2013 | 8 | 3.9% |
| 2014 | 11 | 5.4% |
| 2015 | 7 | 3.4% |
| 2016 | 12 | 5.9% |
| 2017 | 6 | 2.9% |
| 2018 | 4 | 2.0% |
| 2019 | 11 | 5.4% |
| 2020 | 19 | 9.3% |
| 2021 | 13 | 6.3% |
| 2022 | 15 | 7.3% |
| 2023 | 16 | 7.8% |
| 2024 | 15 | 7.3% |
| 2025 | 3 | 1.5% |