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142 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 Type of Variant Source of Genetic Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1322 OMIA:001402-9685 domestic cat Domestic Longhair Domestic medium-haired Domestic Shorthair Ragdoll (Cat) Russian Blue (Cat) Siamese (Cat) Adverse reaction to certain drugs ABCB1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A2 g.93144355_93144356del c.1930_1931del NM_001171064.2; published as ABCB1:1930_1931delTC; resuling in a frameshift generating a series of stop codons immediately downstream from the deletion. The protein product is predicted to be severely truncated (~50%) and non functional (Mealey and Burke, 2015). The original paper does not identify breed but the variant was later reported in heterozyous form in several breeds: PMID:34125616. 2015 25660379 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1073 OMIA:000388-9685 domestic cat Domestic Shorthair Fibrodysplasia ossificans progressiva ACVR1 missense Naturally occurring variant yes Felis_catus_9.0 C1 g.150014354C>T c.617G>A p.(R206H) XM_023259334.1; XP_023115102.1 2019 31007133 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1589 OMIA:000328-9685 domestic cat Domestic Shorthair Ehlers-Danlos syndrome ADAMTS2 delins, small (<=20) Naturally occurring variant yes F.catus_Fca126_mat1.0 A1 g.90995621dup c.698dup p.(Ser235fs*3) XM_023254116.2; XP_023109884.2 2023 37462293
1214 OMIA:001222-9685 domestic cat Persian (Cat) Leber congenital amaurosis AIPL1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E1 g.940445C>T c.577C>T p.(R193*) XM_023243858.1:c.577C>T 2016 27030474 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
1292 OMIA:002316-9685 domestic cat American Shorthair (Cat) Exotic Shorthair (Cat) Munchkin (Cat) Scottish Fold (Cat) Sphynx (Cat) Cardiomyopathy, hypertrophic ALMS1 missense Naturally occurring variant unknown Felis_catus_9.0 A3 g.92439157G>C c.7384G>C p.(G2462R) 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 g.92439157 C variant frequency and the prevalence of HCM" due to high allele frequency of the variant in Sphynx cats in their study. rs5334475133 2021 33639992
550 OMIA:002717-9685 domestic cat Burmese (Cat) Brachycephaly ALX1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B4 g.110088245_110088256del c.497_508del p.(A166_T169del) XM_003989090.4; XP_003989139.1; published as c.496delCTCTCAGGACTG 2016 26610632 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1320 OMIA:000666-9685 domestic cat Siamese (Cat) Mucopolysaccharidosis VI, mild, in L476P/D520N cats ARSB missense Naturally occurring variant yes Felis_catus_9.0 A1 g.145138738C>T c.1558G>A p.(D520N) NM_001142259.1; NP_001135731.1; 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.
132 OMIA:000666-9685 domestic cat Domestic Shorthair Siamese (Cat) Mucopolysaccharidosis VI ARSB missense Naturally occurring variant yes Felis_catus_9.0 A1 g.145138869A>G c.1427T>C p.(L476P) NM_001142259.1; NP_001135731.1 rs5334475159 1996 8910299 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1309 OMIA:002325-9685 domestic cat Encephalopathy, spongy ASPA missense Naturally occurring variant yes Felis_catus_9.0 E1 g.13585610C>G c.859G>C p.(A287P) XM_006939957.4; XP_006940019.1 2021 33779415
1347 OMIA:001071-9685 domestic cat Wilson disease ATP7B missense Naturally occurring variant yes A1 p.(P550L) 2020 31687873
1590 OMIA:001071-9685 domestic cat Domestic Longhair Wilson disease ATP7B missense Naturally occurring variant yes Felis_catus_9.0 A1 g.19609511T>A c.3670T>A p.(W1224R) XM_023251165.1; XP_023106933.1; variant heterozygous in a single affected cat 2023 37427085
1136 OMIA:001071-9685 domestic cat Wilson disease ATP7B missense Naturally occurring variant yes Felis_catus_9.0 A1 g.19611002C>G c.3890C>G p.(T1297R) XM_023251176.1; XM_023251176.1 2019 30561139 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
384 OMIA:001244-9685 domestic cat Abyssinian (Cat) American Curl (Cat) American Wirehair (Cat) Balinese (Cat) Bengal (Cat) Colorpoint Shorthair (Cat) Cornish Rex (Cat) Munchkin (Cat) Ocicat (Cat) Oriental Shorthair (Cat) Peterbald (Cat) Siamese (Cat) Singapura (Cat) Somali (Cat) Tonkinese (Cat) Retinal degeneration II CEP290 splicing Naturally occurring variant yes Felis_catus_9.0 B4 g.112522818A>C c.7584+9T>G XM_023256243.1; 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 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]. 2007 17507457 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770). Variant was initially identified in the Abyssinian and Somali breeds but identified to be present in several other breeds (Menotti-Raymond et al., 2020; Pubmed:19747862)
1573 OMIA:000698-9685 domestic cat Domestic Longhair Myotonia CLCN1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A2 g.158967085_158967092del p.(L143Qfs3*) NP_001291956.1; published as chrA2:15897085‐15 897 092, coordinates in this table have been verified in Felis_catus_9.0 2022 35815860
1623 OMIA:000698-9685 domestic cat Myotonia CLCN1 missense Naturally occurring variant yes Felis_catus_9.0 A2 g.158976314G>C c.991G>C p.(A331P) NM_001305027.1; NP_001291956.1 2023 37668104
408 OMIA:000698-9685 domestic cat Myotonia CLCN1 splicing Naturally occurring variant yes Felis_catus_9.0 A2 g.158986498G>T c.1930+1G>T NM_001305027.1 2014 25356766 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1213 OMIA:001443-9685 domestic cat Domestic medium-haired Neuronal ceroid lipofuscinosis, 6 CLN6 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B3 g.39334330G>A c.668G>A p.(W223*) ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A (Katz et al. (2020) rs5334475122 2020 32518081
1634 OMIA:002793-9685 domestic cat American Shorthair (Cat) Epidermolysis bullosa, junctional, COL17A1-related COL17A1 splicing Naturally occurring variant yes F.catus_Fca126_mat1.0 D2 g.62124169del c.3019+1del XM_006938156.5; variant reported in a single affected cat 2023 37895184
1635 OMIA:002793-9685 domestic cat European Shorthair (Cat) Epidermolysis bullosa, junctional, COL17A1-related COL17A1 splicing Naturally occurring variant yes F.catus_Fca126_mat1.0 D2 g.62149308C>T c.769+5G>A p.([=,p.Val257Glyfs*82]) XM_006938156.5; XP_006938218.3, variant described in a single affected cat 2023 37895184
1465 OMIA:002165-9685 domestic cat Bombay (Cat) classical Ehlers-Danlos syndrome COL5A1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 D4 g.93209345T>A c.3514A>T p.(Lys1172*) XM_023242950.1; XP_023098718.1 2022 35627182
1025 OMIA:002165-9685 domestic cat Domestic Shorthair Ehlers-Danlos syndrome, classic type, 1 COL5A1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D4 g.93210344del c.3420del p.(L1141Sfs*134) XM_023242951.1; XP_023098719.1; published as c.3420delG 2018 30246406
1466 OMIA:002165-9685 domestic cat Domestic Shorthair classical Ehlers-Danlos syndrome COL5A1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D4 g.93215496del c.3066del p.(Gly1023Valfs*50) XM_023242950.1; XP_023098718.1 2022 35627182
1609 OMIA:002165-9685 domestic cat Domestic medium-haired classical Ehlers-Danlos syndrome COL5A1 splicing Naturally occurring variant yes Felis_catus_9.0 D4 g.93290016T>G c.501-2A>C XM_023242950.1 2023 37594181
1464 OMIA:002165-9685 domestic cat Bengal (Cat) classical Ehlers-Danlos syndrome COL5A1 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 D4 g.93331577_93331598del c.112_118+15del r.spl? XM_023242950.1 2022 35627182
944 OMIA:001621-9685 domestic cat Devon Rex (Cat) Sphynx (Cat) Muscular dystrophy-dystroglycanopathy (limb-girdle) COLQ missense Naturally occurring variant yes Felis_catus_9.0 C2 g.135068287C>T c.1190G>A p.(C397Y) rs869320615 rs869320615 2015 26327126 26374066 Genomic location obtained via Ensembl's VEP
1428 OMIA:002533-9685 domestic cat Domestic Shorthair Osteogenesis imperfecta CREB3L1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.100436508_100436509del c.370_371del p.(C124Lfs) XM_003993204.4; XP_003993253.1; published as c.370_371delTG 2022 35168412
916 OMIA:000881-9685 domestic cat Abyssinian (Cat) Rod-cone dysplasia CRX Rdy deletion, small (<=20) Naturally occurring variant yes F.catus_Fca126_mat1.0 E2 g.9492897del c.546del p.(P185Lfs*2) XM_045045412.1; XP_044901347.1; 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 Pyknodysostosis CTSK nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 C1 g.105945826G>A c.724C>T p.(R242*) ENSFCAT00000003643; variant is reported in a single affected cat 2022 36532681
1548 OMIA:002131-9685 domestic cat Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 splicing Naturally occurring variant yes F.catus_Fca126_mat1.0 B4 g.135605715C>T c.226+5G>A XM_045062469.1; 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
1155 OMIA:002131-9685 domestic cat Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 missense Naturally occurring variant yes Felis_catus_9.0 B4 g.137967506C>T c.625G>A p.(G209S) Jaffey e al. (2019): "p.Gly209Ser amino acid change in transcript CYB5R3-202 (ENSFCAT00000056925) at position B4:137967506" 2019 31650629
1156 OMIA:002131-9685 domestic cat Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 splicing Naturally occurring variant yes Felis_catus_9.0 B4 g.137970815C>G c.232-1G>C Jaffey et al. (2019): "a putative loss of function splice acceptor variant at c.232-1G>C in the CYB5R3-202 transcript (ENSFCAT00000056925) at position B4:137970815 that is in the acceptor site for exon 4, which likely affects downstream translation of the protein." 2019 31650629
117 OMIA:001661-9685 domestic cat Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency CYP11B1 missense Naturally occurring variant yes Felis_catus_9.0 F2 g.84247412G>A c.1151G>A p.(R384Q) XM_004000154.3; XP_004000203.1 published as "a guanosine-to-adenosine mutation in exon 7 that results in an arginine to glutamine amino acid substitution; this latter mutation results in 11β-hydroxylase deficiency-associated CAH in people [Parajes et al. (2010) J Clin Endocrinol Metab 95:779–788]. 2012 22827537 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
502 OMIA:000837-9685 domestic cat Vitamin D-deficiency rickets, type I CYP27B1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B4 g.86180281del c.731del p.(R244Pfs*32) XM_003988966.3; XP_003989015.1; published as c.731delG 2009 19138382 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
315 OMIA:000837-9685 domestic cat Siamese (Cat) Vitamin D-deficiency rickets, type I CYP27B1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B4 g.86180375C>A c.637G>T p.(E213*) XM_003988966.3; XP_003989015.1; rs5334475145 2012 22553308 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1137 OMIA:002221-9685 domestic cat Domestic Shorthair Vitamin D-deficiency rickets, type Ib CYP2R1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.72977336del c.1386del p.(F462Lfs*20) XM_003993015.5; XP_003993064.1; genomic position in accordance with HGVS 3'-rule 2019 30777056 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
922 OMIA:001081-9685 domestic cat Domestic Shorthair Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes 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 Muscular dystrophy, Duchenne type DMD deletion, gross (>20) Naturally occurring variant yes 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
1656 OMIA:001081-9685 domestic cat Domestic Shorthair Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) Naturally occurring variant yes F.catus_Fca126_mat1.0 X g.27949145C>T c.4849C>T p.(Q1617*) XM_023249210.1 2024 38180235
1531 OMIA:001888-9685 domestic cat Becker muscular dystrophy DMD missense Naturally occurring variant yes F.catus_Fca126_mat1.0 X g.27988938G>A c.4186C>T p.(H1396Y) XM_045050787.1; XP_044906722.1 2023 36834603
1510 OMIA:001081-9685 domestic cat Maine Coon (Cat) Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) Naturally occurring variant yes F.catus_Fca126_mat1.0 X g.28208148G>A c.1180C>T p.(R394*) XM_045050794.1; XP_044906729.1 2022 36359052
125 OMIA:001776-9685 domestic cat Dihydropyrimidinase deficiency DPYS missense Naturally occurring variant yes Felis_catus_9.0 F2 g.52064442C>T c.1303G>A p.(G435R) XM_023248231.1; XP_023103999.1 2012 23430934 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1392 OMIA:002452-9685 domestic cat Domestic Shorthair Hair shaft dysplasia DSG4 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D3 g.55315010del c.76del p.(I26Lfs*4) XM_019815116.1; XP_019670675.1 2022 34878611
1393 OMIA:002452-9685 domestic cat Domestic Shorthair Hair shaft dysplasia DSG4 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D3 g.55336127del c.1777del p.(H593Tfs*23) XM_019815116.1; XP_019670675.1 2022 34878611
1439 OMIA:001457-9685 domestic cat Multiple acyl-CoA dehydrogenase deficiency ETFDH missense Naturally occurring variant yes Felis_catus_9.0 B1 g.71374631A>C c.692T>G p.(F231C) NM_001290236.1; NP_001277165.1 2014 24142280 Thanks to Heidi Anderson for alerting OMIA to this paper; 31 March 2022
1467 OMIA:002554-9685 domestic cat Osteochondromatosis (feline leukemia virus-negative) EXT1 duplication Naturally occurring variant yes F.catus_Fca126_mat1.0? F2 g.61870704dup c.1468dup p.(L490Pfs*31) XM_023248762.2; 2022 35719100
1472 OMIA:000363-9685 domestic cat Maine Coon (Cat) Factor XI deficiency F11 missense Naturally occurring variant yes Felis catus 9.0 B1 g.17176154G>A c.1546G>A p.(V516M) XM_003984601.5; XP_003984650.2 2022 35627175
533 OMIA:000364-9685 domestic cat Factor XII deficiency F12 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A1 g.175381114del c.1321del p.(L441Cfs*119) NM_001168212.2; NP_001161684.2; published as c.1321delC 2015 24793828 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
147 OMIA:000364-9685 domestic cat Domestic Shorthair Factor XII deficiency F12 missense Naturally occurring variant yes Felis_catus_9.0 A1 g.175382065G>C c.1631G>C p.(G544A) NM_001168212.2; NP_001161684.2 rs5334475144 2017 28392508 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
127 OMIA:000438-9685 domestic cat Domestic Longhair Haemophilia B F9 missense Naturally occurring variant yes Felis_catus_9.0 X g.117091961G>A c.383G>A p.(C128Y) NM_001009377.3; NP_001009377.1; 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.
310 OMIA:000438-9685 domestic cat Haemophilia B F9 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 X g.117111577C>T c.1150C>T p.(R384*) NM_001009377.3; NP_001009377.1; 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.
613 OMIA:002064-9685 domestic cat British Shorthair (Cat) Autoimmune lymphoproliferative syndrome FASLG duplication Naturally occurring variant yes Felis_catus_9.0 F1 g.16871916dup c.418dup p.(R140Kfs*37) NM_001009352.1; NP_001009352.1; 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
1319 OMIA:001949-9685 domestic cat Birman (Cat) Hypotrichosis, with short life expectancy FOXN1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 E1 g.18255880_18255883del c.1030_1033del p.L344Gfs XM_019817475.2; XP_019673034.1; 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.
1544 OMIA:000419-9685 domestic cat Domestic Shorthair Glycogen Storage Disease Type II (Pompe Disease) GAA missense Naturally occurring variant yes Felis_catus_9.0 E1 g.60946737G>A c.1799G>A p.(R600H) XM_006940651.4; XP_006940713.4 2023 37106898 The OMIA curators thank Osamu Yamato for providing the variant information not included in Rakib et al. (2023); 17 April 2023.
742 OMIA:000420-9685 domestic cat Norwegian Forest Cat (Cat) Glycogen storage disease IV GBE1 delins, gross (>20) Naturally occurring variant yes Felis_catus_9.0 C2 g.34744479_34781895delinsN[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.
1221 OMIA:002366-9685 domestic cat Toyger (Cat) Holoprosencephaly GDF7 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A3 g.127002233_127002239del c.221_227del p.(R74Pfs*17) XM_023252074.1; XP_023107842.1; 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
126 OMIA:000402-9685 domestic cat Korat (Cat) Siamese (Cat) Gangliosidosis, GM1 GLB1 missense Naturally occurring variant yes Felis_catus_9.0 C2 g.158932167C>G c.1448G>C p.(R483P) rs5334475143 2008 18353697 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
496 OMIA:001427-9685 domestic cat Gangliosidosis, GM2, GM2A deficiency GM2A deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A1 g.198114664_198114667del c.516_519del p.(V173Sfs*17) XM_003981379.5; XP_003981428.2; published as c.516_519delGGTC 2005 16200419 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1035 OMIA:001248-9685 domestic cat Domestic Shorthair Mucolipidosis II GNPTAB nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B4 g.124431151G>A c.2644C>T p.(Q882*) XM_003989173.5; XP_003989222.2 2018 30591066 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
383 OMIA:000821-9685 domestic cat Primary hyperoxaluria type II (Oxalosis II) GRHPR splicing Naturally occurring variant yes Felis_catus_9.0 D4 g.60968927G>A p.(N169Kfs*46) "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" ; protein position based on XP_006939354.1 rs5334475152 2009 Reference not in PubMed; see OMIA 000821-9685 for reference details
133 OMIA:000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense Naturally occurring variant yes Felis_catus_9.0 E3 g.16120173G>A c.1051G>A p.(E351K) NM_001009310.1; NP_001009310.1; 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 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
139 OMIA:000667-9685 domestic cat Mucopolysaccharidosis VII GUSB missense Naturally occurring variant yes Felis_catus_9.0 E3 g.[16123229T>G;16123232C>T] c.[1423T>G;1426C>T] p.(S475_R476delinsAW) NM_001009310.1; NP_001009310.1; 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.
145 OMIA:001987-9685 domestic cat Japanese domestic Bobtail HES7 JBT missense Naturally occurring variant yes Felis_catus_9.0 E1 g.2918735A>G c.5A>G p.(V2A) XM_003996191.4:c.5T>C; Felis_catus_6.2: g.2819475A>G rs5334475119 2016 27030474 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
497 OMIA:001462-9685 domestic cat Korat (Cat) Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A1 g.141540010del c.39del p.(L14Sfs*82) NM_001009333.2; NP_001009333.2; published as c.39delC 1994 8178934 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
309 OMIA:001462-9685 domestic cat Japanese domestic Gangliosidosis, GM2, type II (Sandoff or variant 0) HEXB nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 A1 g.141565348C>T c.667C>T p.(R223*) NM_001009333.2; NP_001009333.2 2007 16872651 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
381 OMIA:001462-9685 domestic cat Burmese (Cat) Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB splicing Naturally occurring variant yes Felis_catus_9.0 A1 g.141571030_141571044del c.1244-8_1250del NM_001009333.2 2009 19231264 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
741 OMIA:001462-9685 domestic cat Domestic Shorthair Gangliosidosis, GM2, type II (Sandhoff or variant 0) HEXB inversion Naturally occurring variant yes Felis_catus_9.0 A1 g.141571788_141571812inv c.1467_1491inv p.(F489Lfs*4) NM_001009333.2; NP_001009333.2 2004 15081585 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
596 OMIA:001493-9685 domestic cat Siamese (Cat) Porphyria, acute intermittent HMBS insertion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 16541468dup c.189dup p.(L64Sfs*2) NM_001177808.1; NP_001171279.1; published as c.189dupT 2010 19934113 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
530 OMIA:001493-9685 domestic cat Porphyria, acute intermittent HMBS deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.16540928_16540931del c.107_110del p.(D36Vfs*6) NM_001177808.1; NP_001171279.1; published as c.107_110delACAG 2013 24239138 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
135 OMIA:001493-9685 domestic cat Porphyria, acute intermittent HMBS missense Naturally occurring variant yes Felis_catus_9.0 D1 g.16541614G>A c.250G>A p.(A84T) NM_001177808.1; NP_001171279.1 rs5334475139 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
136 OMIA:001493-9685 domestic cat Porphyria, acute intermittent HMBS missense Naturally occurring variant yes Felis_catus_9.0 D1 g.16542541C>T c.445C>T p.(R149W) NM_001177808.1; NP_001171279.1 rs5334475165 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
402 OMIA:001493-9685 domestic cat Porphyria, acute intermittent HMBS splicing Naturally occurring variant yes Felis_catus_9.0 D1 g.16544575G>A c.826-1G>A NM_001177808.1 rs5334475129 2013 24239138 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
501 OMIA:001493-9685 domestic cat Siamese (Cat) Porphyria, acute intermittent HMBS deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.16544592_16544594del c.842_844del p.(G281del) NM_001177808.1; NP_001171279.1; published as c.842_844delGAG 2013 24239138 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1423 OMIA:002116-9685 domestic cat Donskoy (Cat) Pink-eye HPS5 splicing Naturally occurring variant yes Felis_catus_9.0 D1 g.76211236C>T c.2571-1G>A XM_006937131.3 2020 32558164
1222 OMIA:002229-9685 domestic cat Lykoi (Cat) Hypotrichia and Roaning HR hr^TN duplication Naturally occurring variant yes Felis_catus_9.0 B1 g.36040784_36040785dup c.1255_1256dup p.(Q420Sfs*100) ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1255_1256dupGT 2020 32580512
1224 OMIA:002229-9685 domestic cat Lykoi (Cat) Hypotrichia and Roaning HR hr^Fr splicing Naturally occurring variant yes Felis_catus_9.0 B1 g.36040933delinsCAG c.1404+2delinsCAG ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1404+2delTinsCAG; changed to HGVS nomenclature 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
1225 OMIA:002229-9685 domestic cat Lykoi (Cat) Hypotrichia and Roaning HR hr^TX splicing Naturally occurring variant yes Felis_catus_9.0 B1 g.36045776G>A c.2112G>A ENSFCAT00000012982.5; ENSFCAP00000012037.2; "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
1226 OMIA:002229-9685 domestic cat Lykoi (Cat) Hypotrichia and Roaning HR hr^NC nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B1 g.36047047C>T c.2243C>T p.(R748*) rs5334475155 2020 32580512
1227 OMIA:002229-9685 domestic cat Lykoi (Cat) Hypotrichia and Roaning HR hr^Ca nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 B1 g.36047518C>T c.2593C>T p.(Q865*) ENSFCAT00000012982.5; ENSFCAP00000012037.2 rs5334475120 2020 32580512
1223 OMIA:002229-9685 domestic cat Lykoi (Cat) Hypotrichia and Roaning HR hr^VA insertion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.36051555_36051556insGACA c.3389_3390insGACA p.(S1130Rfs*29) ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as g.36051555insGACA and c.3389insGACA; changed to HGVS nomenclature in this table 2020 32580512
500 OMIA:000664-9685 domestic cat Mucopolysaccharidosis I IDUA deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.207800586_207800588del c.1042_1044del p.(D348del) NM_001305032.1; NP_001291961.1; a 3 bp deletion in the IDUA gene; HGVS 3'-rule applied to variant coordinates in this table 1999 10356309 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1245 OMIA:001000-9685 domestic cat Domestic Shorthair Glanzmann's thrombasthenia ITGA2B deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 E1 g.44416063del c.1986delC p.(P662fs) ENSFCAT00000003056.6:c.1986delC; p.Pro662fs (Li et al., 2020) rs5334475153 2020 32935881
775 OMIA:000595-9685 domestic cat Leukocyte adhesion deficiency, type I ITGB2 ITGB-2 missing exon 2 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 C2 g.1772101_1772124del c.46_58+11del XM_011285804.3; 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.
1191 OMIA:002267-9685 domestic cat Bengal (Cat) Progressive retinal atrophy KIF3B missense Naturally occurring variant yes Felis_catus_9.0 A3 g.26784019C>T c.1000G>A p.(A334T) ENSFCAT00000022266; c.1000G>A (p.Ala334Thr) rs5334475117 2020 32386558 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)
1229 OMIA:002281-9685 domestic cat Domestic Shorthair Epidermolysis bullosa, simplex, KRT14-related KRT14 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E1 g.42361726G>A c.979C>T p.(Q327*) XM_003996860.5; XP_003996909.2 2020 32657488 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
382 OMIA:001583-9685 domestic cat Sphynx (Cat) Sphynx hairless KRT71 Re^HR splicing Naturally occurring variant yes Felis_catus_9.0 B4 g.81048680C>T c.816+1G>A rs5334475135 2010 20953787 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1535 OMIA:001371-9685 domestic cat Domestic Shorthair L-2-hydroxyglutaricacidemia L2HGDH nonsense (stop-gain) Naturally occurring variant yes F.catus_Fca126_mat1.0 B3 g.97881395G>A c.397C>T p.(Q133*) XM_023255678.2; XP_023111446.2 2023 36880414
1317 OMIA:001371-9685 domestic cat Domestic Longhair L-2-hydroxyglutaric aciduria L2HGDH missense Naturally occurring variant yes Felis_catus_9.0 B3 g.100207200T>C c.1301A>G p.(H434R) XM_023255678.1; XP_023111446.1 rs5334475154 2021 34062805
649 OMIA:002389-9685 domestic cat Maine Coon (Cat) Spinal muscular atrophy LIX1 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 A1 g.161036890_161176706del 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.
434 OMIA:000810-9685 domestic cat Polydactyly LMBR1 Pd^UK2 regulatory Naturally occurring variant yes Felis_catus_9.0 A2 g.169532842T>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.
432 OMIA:000810-9685 domestic cat Maine Coon (Cat) Polydactyly LMBR1 Pd^Hw regulatory Naturally occurring variant yes Felis_catus_9.0 A2 g.169532844T>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.
433 OMIA:000810-9685 domestic cat Polydactyly LMBR1 Pd^UK1 regulatory Naturally occurring variant yes Felis_catus_9.0 A2 g.169533066C>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.
131 OMIA:001210-9685 domestic cat Hyperlipoproteinaemia LPL missense Naturally occurring variant yes Felis_catus_9.0 B1 g.38078551C>T c.1315G>A p.(G439R) NM_001042567.1; NP_001036032.1; 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.
610 OMIA:002017-9685 domestic cat Siamese (Cat) Glaucoma 3, primary congenita LTBP2 duplication Naturally occurring variant yes Felis_catus_9.0 B3 g.121929604_121929607dup c.1449_1452dup p.(A485Gfs) ENSFCAT00000064963.2; ENSFCAP00000046761.2; published as "a 4-bp insertion in exon 8 located at chrB3: 120995236"[felCat5] 2016 27149523 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1394 OMIA:002485-9685 domestic cat British Shorthair (Cat) Skeletal dysplasia, LTBP3-related LTBP3 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.110690432del c.158del p.(G53Afs*16) XM_023240055.1; XP_023095823.1 2021 34946872
1147 OMIA:000185-9685 domestic cat Persian (Cat) Chediak-Higashi disease LYST repeat variation Naturally occurring variant yes Felis_catus_9.0 D2 g.13289500_13308861dup c.8347-2422_9548+1749dup Buckley et al. (2020): "a tandem segmental duplication encompassing exons 30 through to 38 (NM_001290242.1:c.8347-2422_9548 + 1749dup) (NC_018733.3:g.13289500_13308861dup)" 2020 31919397
499 OMIA:000625-9685 domestic cat Persian (Cat) Mannosidosis, alpha MAN2B1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 A2 g.9011118_9011121del c.1749_1752del p.(Q584Afs) NM_001009222.1; NP_001009222.1 1997 9396732 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1636 OMIA:000626-9685 domestic cat Domestic Shorthair Mannosidosis, beta MANBA missense Naturally occurring variant yes Felis_catus_9.0 B1 g.121800342G>A c.2506G>A p.(G836R) ENSFCAT00000007560, variant was reported in a single affected cat 2023 37913889
1148 OMIA:001962-9685 domestic cat Domestic Shorthair Neuronal ceroid lipofuscinosis, 7 MFSD8 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.98935076del c.780del p.(Q262Kfs*33) XM_019828986.2; XP_019684545.1; published as c.780delT 2020 31860737
1475 OMIA:001508-9685 domestic cat Maine Coon (Cat) Myotubular myopathy 1 MTM1 missense Naturally occurring variant yes Felis_catus_9.0 X g.125938001C>T c.455C>T p.(A152V) XM_004000974.4; XP_004001023.1 2022 35962713
902 OMIA:000515-9685 domestic cat Ragdoll (Cat) Cardiomyopathy, hypertrophic MYBPC3 missense Naturally occurring variant yes Felis_catus_9.0 D1 g.101329646G>A c.2453C>T p.(R818W) XM_019812397.1; XP_019667956.1; 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.
901 OMIA:000515-9685 domestic cat Maine Coon (Cat) Munchkin (Cat) Scottish Fold (Cat) Cardiomyopathy, hypertrophic MYBPC3 missense Naturally occurring variant yes Felis_catus_9.0 D1 g.101340772C>G c.91G>C p.(A31P) XM_019812397.1; XP_019667956.1; 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.
1121 OMIA:002212-9685 domestic cat Domestic Shorthair Cardiomyopathy, hypertrophic, MYH7-related MYH7 missense Naturally occurring variant yes Felis_catus_9.0 B3 g.76166296C>T c.5647G>A p.(E1883K) XM_006932746.4; XP_006932808.1 rs3166775194 2019 31164718 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
134 OMIA:000725-9685 domestic cat Domestic Shorthair Niemann-Pick disease, type C1 NPC1 missense Naturally occurring variant yes Felis_catus_9.0 D3 g.48234217C>G c.2864G>C p.(C955S) rs5334475149 2003 12809639 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
146 OMIA:000725-9685 domestic cat Domestic Shorthair Niemann-Pick disease, type C1 NPC1 missense Naturally occurring variant yes Felis_catus_9.0 D3 g.48250290T>G c.1322A>C p.(H441P) rs5334475146 2017 28233346 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1572 OMIA:002065-9685 domestic cat Japanese domestic Siamese (Cat) Niemann-Pick disease, type C2 NPC2 missense Naturally occurring variant unknown Felis_catus_9.0 B3 g.121865210G>A c.367G>A p.(V126M) XM_003987833.6; XP_003987882.1 2023 37458497
420 OMIA:002065-9685 domestic cat Niemann-Pick disease, type C2 NPC2 splicing Naturally occurring variant yes Felis_catus_9.0 B3 g.121872988C>T c.82+5G>A p.(G28_S29ins35) rs5334475124 2014 25396745 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1055 OMIA:002117-9685 domestic cat Domestic Shorthair Inflammatory linear verrucous epidermal nevi NSDHL missense Naturally occurring variant yes Felis_catus_9.0 X g.127926365A>G c.397A>G p.(S133G) XM_004000985.5; XP_004001034.1 2019 30474267 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1278 OMIA:002303-9685 domestic cat Cerebral dysgenesis PEA15 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 F1 g.66768324del c.176del p.(N59Tfs*29) XM_023247767.1; XP_023103535.1; published as felCat9 chrF1:66768323 GT -> G; c.176delA by Graff et al. (2020) rs5334475160 2020 33290415
1610 OMIA:000807-9685 domestic cat Scottish Fold (Cat) Polycystic kidney disease PKD1 delins, small (<=20) Naturally occurring variant yes Felis_catus_9.0 E3 g.42848725del c.5250del p.(G1641fs) variant reported in a single cat 2023 37489504
1611 OMIA:000807-9685 domestic cat American Shorthair (Cat) Polycystic kidney disease PKD1 missense Naturally occurring variant yes Felis_catus_9.0 E3 g.42850283C>T c.6808C>T p.(R2162W) variant reported in a single cat 2023 37489504
314 OMIA:000807-9685 domestic cat American Shorthair (Cat) Exotic Shorthair (Cat) Munchkin (Cat) Persian (Cat) Scottish Fold (Cat) Polycystic kidney disease PKD1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E3 g.42858112C>A c.9882C>A p.(C3294*) This variant was published as c.10063C>A, p.(C3284*); positions in this table are based on NC_018738.3 and XP_023102816.1, respectively. The varaint has been initially identified in Persian cats but has since been reported in other breeds, e.g. PMID:31155548; PMID:37489504 rs5334475162 2004 15466259
1424 OMIA:002525-9685 domestic cat Siberian (Cat) Polycystic kidney disease 2 PKD2 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B1 g.134992553del c.2211del (p.K737Nfs*2) XM_011281830.3; XP_011280132.2; published as c.2211delG 2021 33785770
899 OMIA:000844-9685 domestic cat Abyssinian (Cat) Bengal (Cat) Egyptian Mau (Cat) LaPerm (Cat) Maine Coon (Cat) Norwegian Forest Cat (Cat) Savannah (Cat) Siberian (Cat) Singapura (Cat) Somali (Cat) Pyruvate kinase deficiency of erythrocyte PKLR splicing Naturally occurring variant yes Felis_catus_9.0 F1 g.70310110G>A 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,
1377 OMIA:002469-9685 domestic cat Retinopathy RDH5 missense Naturally occurring variant yes Felis_catus_9.0 B4 g.84417264G>T c.542G>T p.(G181V) XM_019835050.1; XP_019690609.1 2021 34726233 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
1354 OMIA:000593-9685 domestic cat Turkish Van (Cat) Acrodermatitis enteropathica SLC39A4 missense Naturally occurring variant yes Felis_catus_9.0 F2 g.85320523C>G c.1057G>C p.(G353R) cDNA and protein position based on XM_004000173.3 and XP_004000222.2, respectively rs5334475163 2021 34573291
141 OMIA:000256-9685 domestic cat Domestic Shorthair Cystinuria, type I - A SLC3A1 missense Naturally occurring variant yes Felis_catus_9.0 A3 g.66539609C>T c.1342C>T p.(R448W) XM_003983937.5:c.1342C>T; Felis_catus_6.2: g.66470414C>T rs5334475150 2015 25417848 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
142 OMIA:002023-9685 domestic cat Cystinuria, type B SLC7A9 missense Naturally occurring variant yes Felis_catus_9.0 E2 g.20218196G>A c.706G>A p.(D236N) 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.
143 OMIA:002023-9685 domestic cat Maine Coon (Cat) Siamese (Cat) Sphynx (Cat) Cystinuria, type B SLC7A9 missense Naturally occurring variant yes Felis_catus_9.0 E2 g.20219555T>A c.881T>A p.(V294E) 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. Thank you to Heidi Anderson for feedback on a previous incorrect breed association for this variant.
144 OMIA:002023-9685 domestic cat Cystinuria, type B SLC7A9 missense Naturally occurring variant yes Felis_catus_9.0 E2 g.20228722C>T c.1175C>T p.(T392M) 2016 27404572 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1193 OMIA:001795-9685 domestic cat Niemann-Pick disease, type A SMPD1 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 D1 g.65190416G>A c.1017G>A p.(W339*) XM_006937046.3; XP_006937108.1 2020 32347185 Genomic position in Felis_catus_9.0 provided by Joshua Khamis.
1546 OMIA:002669-9685 domestic cat Domestic Shorthair Sebaceous gland dysplasia SOAT1 missense Naturally occurring variant yes F.catus_Fca126_mat1.0 F1 g.20914140G > A c.1531G>A p.(G511R) XM_011291017.4; XP_011289319.1 2023 37060467
1425 OMIA:002526-9685 domestic cat Alimentary lymphoma, inducer of STAT5B missense Naturally occurring variant yes Felis_catus_9.0 E1 g.42844462T>G c.1924A>C p.(N642H) XP_023100377.1; XM_023244609.1; SOMATIC MUTATION 2021 34680385
1132 OMIA:002219-9685 domestic cat Domestic Shorthair Hypogonadotropic hypogonadism, TAC3-related TAC3 missense Naturally occurring variant yes Felis_catus_9.0 B4 g.85517451C>T c.220G>A p.(V74M) Hug et al. (2019): XM_003988924.5:c.220G>A; XP_003988973.1:p.(Val74Met) 2019 31615056
650 OMIA:001617-9685 domestic cat Sweet taste, lack of TAS1R2 deletion, gross (>20) Naturally occurring variant yes Felis_catus_9.0 C1 Felis_catus_9.0 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 Manx (Cat) Pixiebob (Cat) Tail, short TBXT MX^4 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B2 g.152019395del c.1196del p.(P399Rfs*26) XM_003986708.3; XP_003986757.2; 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.
524 OMIA:000975-9685 domestic cat Manx (Cat) Pixiebob (Cat) Tail, short TBXT MX^3 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B2 g.152019424del c.1166del p.(P389Rfs*36) XM_003986708.3; XP_003986757.2; 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.
523 OMIA:000975-9685 domestic cat Manx (Cat) Pixiebob (Cat) Tail, short TBXT MX^1 deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B2 g.152021379del c.995delT p.(L332Pfs*22) XM_003986708.3; XP_003986757.2; 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.
623 OMIA:000975-9685 domestic cat Manx (Cat) Pixiebob (Cat) Tail, short TBXT MX^2 delins, small (<=20) Naturally occurring variant no Felis_catus_9.0 B2 g.[152021360_152021362del;152021363_152021379dup] c.[995_1011dup;1011_1014del] p.(A338Sfs*21) XM_003986708.3; XP_003986757.2; 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.
138 OMIA:000536-9685 domestic cat Domestic Shorthair Hypothyroidism TPO missense Naturally occurring variant yes Felis_catus_9.0 A3 g.142335362C>T c.1333G>A p.(A445T) XM_006930524.4; XP_006930586.2 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.
1485 OMIA:000536-9685 domestic cat British Shorthair (Cat) Domestic Longhair Domestic medium-haired Domestic Shorthair Russian Blue (Cat) Hypothyroidism TPO missense Naturally occurring variant yes Felis_catus_9.0 A3 g.142345528C>T c.430G>A p.(G144R) XM_006930524.4; XP_006930586.2 2022 36054182
140 OMIA:000319-9685 domestic cat Scottish Fold (Cat) Ears, folded TRPV4 Fd missense Naturally occurring variant yes Felis_catus_9.0 D3 g.18884219C>A c.1024G>T p.(V342F) XM_023241517.1; XP_023097285.1 2016 27063440 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
349 OMIA:000202-9685 domestic cat Albinism TYR c^2 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 D1 g.45812806G>A c.1204C>T p.(R402*) XM_003992642.4; XP_003992691.2 rs5334475126 2017 27634063 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1024 OMIA:000202-9685 domestic cat Burmese (Cat) Mocha TYR c^m duplication Naturally occurring variant no Felis_catus_9.0 D1 g.45898609_45898771dup c.820_936delinsAATCTC p.(I274_L312delinsNL) Yu et al. (2019): "Sanger sequencing for genomic DNA revealed NC_018732.3:chromosome D1:45 898 609_45 898 771dup in exon 2 and intron 2 of TYR. Transcription analysis using cDNA detected c.820_936delinsAATCTC (p.I274_L312delinsNL), which caused a 111-bp (37 amino acid) deletion in the reading frame of TYR." 2019 30716167
494 OMIA:000202-9685 domestic cat Coat colour, complete albinism TYR c deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 D1 g.45898772del c.939del p.(S314Pfs*9) XM_003992642.4; XP_003992691.2; published as "a cytosine deletion in TYR at position 975 in exon 2" 2006 16573534 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
122 OMIA:000202-9685 domestic cat Siamese (Cat) Siamese coat colour pattern TYR c^s missense Naturally occurring variant no Felis_catus_9.0 D1 g.45898803C>T c. 904G>A p.(G302R) ENSFCAT00000029640.4; ENSFCAP00000020791.3; 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.
121 OMIA:000202-9685 domestic cat Burmese (Cat) Burmese coat colour pattern TYR c^b missense Naturally occurring variant no Felis_catus_9.0 D1 g.45907839C>A c.679G>T p.(G227W) XM_003992642.4; XP_003992691.2; Felis_catus_6.2: g.46406472G>T rs5334475127 2005 15771720 The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)
1228 OMIA:002541-9685 domestic cat Munchkin (Cat) Munchkin standard UGDH delins, gross (>20) Naturally occurring variant yes Felis_catus_9.0 B1 g.174882895_174886198delinsN[108] NC_018726.3:g.174882895_174886198delins108, Felis catus 9.0 (Struck et al., 2020) 2020 32605545
740 OMIA:001586-9685 domestic cat Deficient acetaminophen glucuronidation UGT1A6 complex rearrangement Naturally occurring variant yes Felis_catus_9.0 C1 Felis_catus_9.0 "sequencing of the entire UGT1A6 exon 1 coding region revealed five deleterious genetic mutations ... [in cats] UGT1A6 is a pseudogene" 2000 10862526
137 OMIA:001175-9685 domestic cat Porphyria, congenital erythropoietic UROS missense Naturally occurring variant yes Felis_catus_9.0 D2 g.[83467845C>T;83482394G>A] c.[140C>T;331G>A] p.[(S47F);(G111S)] XM_003994514.4; XP_003994563.1 2010 20485863 Genomic position in Felis_catus_9.0 provided by Joshua Khamis, Leslie Lyons and Reuben Buckley.
1586 OMIA:001431-9685 domestic cat Domestic Longhair Vitamin D-dependent rickets type 2 VDR deletion, small (<=20) Naturally occurring variant yes Felis_catus_9.0 B4 g.76777621del c.106del p.(R36Efs*18) ENSFCAT00000029466; published as c.106delC 2023 37387221
312 OMIA:001759-9685 domestic cat Burmese (Cat) Hypokalaemic periodic paralysis WNK4 nonsense (stop-gain) Naturally occurring variant yes Felis_catus_9.0 E1 g.43304422C>T c.2899C>T p.(Q967*) XM_019817922.2; XP_019673481.1 2012 23285264 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1541 OMIA:002445-9685 domestic cat Domestic Shorthair Xanthinuria, type 1 XDH missense Naturally occurring variant yes Felis_catus_9.0 A3 g.114863284C>T c.2042C>T p.(A681V) 2023 36970934
Overall Statistics
Total number of variants 142
Variants with genomic location 139 (97.9% )
Variants in a variant database, i.e. with rs ID 1 (0.7%)
Variant Type Count Percent
complex rearrangement 1 0.7%
deletion, gross (>20) 6 4.2%
deletion, small (<=20) 30 21.1%
delins, gross (>20) 2 1.4%
delins, small (<=20) 3 2.1%
duplication 5 3.5%
insertion, small (<=20) 2 1.4%
inversion 1 0.7%
missense 54 38.0%
nonsense (stop-gain) 18 12.7%
regulatory 3 2.1%
repeat variation 1 0.7%
splicing 16 11.3%
Year First Reported Count Percent
1994 2 1.4%
1995 0 0.0%
1996 2 1.4%
1997 1 0.7%
1998 1 0.7%
1999 2 1.4%
2000 1 0.7%
2001 0 0.0%
2002 0 0.0%
2003 1 0.7%
2004 2 1.4%
2005 7 4.9%
2006 2 1.4%
2007 4 2.8%
2008 4 2.8%
2009 3 2.1%
2010 4 2.8%
2011 0 0.0%
2012 5 3.5%
2013 9 6.3%
2014 4 2.8%
2015 7 4.9%
2016 8 5.6%
2017 5 3.5%
2018 2 1.4%
2019 9 6.3%
2020 18 12.7%
2021 8 5.6%
2022 13 9.2%
2023 17 12.0%
2024 1 0.7%