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131 variant records found | [show instead phene records] |
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
OMIA ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Deleterious? | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OMIA 000388-9685 | domestic cat | Domestic Shorthair | Fibrodysplasia ossificans progressiva | ACVR1 | missense | yes | Felis_catus_9.0 | C1 | c.617G>A | p.R206H | Casal et al. (2019): NC_018730.3. | 2019 | 31007133 | ||||
OMIA 001222-9685 | domestic cat | Persian | Leber congenital amaurosis | AIPL1 | nonsense (stop-gain) | yes | Felis_catus_6.2 | c.577C>T | p.(Arg193*) | 2016 | 27030474 | ||||||
OMIA 001551-9685 | domestic cat | Burmese | Brachycephaly | ALX1 | deletion, small (<=20) | yes | c.496delCTCTCAGGACTG | 2016 | 26610632 | ||||||||
OMIA 000666-9685 | domestic cat | Siamese | Mucopolysaccharidosis VI | ARSB | missense | yes | Felis_catus_6.2 | A1 | g.143229993T>C | c.1427T>C | p.L476P | 1996 | 8910299 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 000201-9685 | domestic cat | Coat colour, non-agouti (black) | ASIP | a | deletion, small (<=20) | no | "a 2 bp deletion in the ASIP gene [at nucleotide positions 123-124]" | 2003 | 12620197 | ||||||||
OMIA 001071-9685 | domestic cat | Wilson disease | ATP7B | missense | yes | c.3890C>G | (p. T1297R) | 2019 | 30561139 | ||||||||
OMIA 001244-9685 | domestic cat | Retinal degeneration II | CEP290 | splicing | yes | IVS50 + 9T>G | 2007 | 17507457 | |||||||||
OMIA 000698-9685 | domestic cat | Myotonia | CLCN1 | splicing | yes | Felis_catus_6.2 | A2 | g.157306905G>T | c.1930+1G>T | 2014 | 25356766 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
OMIA 001443-9685 | domestic cat | Domestic medium-haired | Neuronal ceroid lipofuscinosis, 6 | CLN6 | nonsense (stop-gain) | yes | Felis_Catus_9.0 | B3 | g.39334330G>A | c.668G>A | p.(Trp223Ter) | ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A (Katz et al. (2020) | 2020 | 32518081 | |||
OMIA 000119-9685 | domestic cat | Blood group system AB | CMAH | regulatory | no | "an indel in the exon 1 5' UTR" | 2007 | 17553163 | |||||||||
OMIA 000119-9685 | domestic cat | Blood group system AB | CMAH | regulatory | no | "2 SNPs upstream of the start" | 2007 | 17553163 | |||||||||
OMIA 000119-9685 | domestic cat | Blood group system AB | CMAH | regulatory | no | an indel in the exon 1 5' UTR | 2007 | 17553163 | |||||||||
OMIA 000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | missense | no | c.179G>T | p.G60V | 2016 | 27755584 | ||||||||
OMIA 000119-9685 | domestic cat | Blood group system AB | CMAH | missense | no | c.187A>G | p.I63V | 2016 | 27755584 | ||||||||
OMIA 000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | missense | no | c.364C>T | p.P122S | 2016 | 27171395 | ||||||||
OMIA 000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | deletion, small (<=20) | no | Felis_catus_6.2 | c.1322delT | p.Leu441* | 2018 | 30235335 | |||||||
OMIA 000119-9685 | domestic cat | Blood group system AB | CMAH | missense | no | Felis_catus_6.2 | B2 | g.4587414G>A | c.139G>A | p.V47M | 2007 | 17553163 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 000119-9685 | domestic cat | 2019 TYPING PANEL | CMAH | missense | no | Felis_catus_6.2 | B2 | g.4590792T>A | c.268T>A | p.Y89N | The original (2007) designation of the c. coordinate was c.265T>A. The revised designation of c.268T>A is taken from Kehl et al. (2019) | 2007 | 17553163 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 000119-9685 | domestic cat | Blood group system AB | CMAH | missense | no | Felis_catus_6.2 | B2 | g.4637820G>A | c.1600G>A | p.D534N | 2007 | 17553163 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 002165-9685 | domestic cat | Domestic Shorthair | Ehlers-Danlos syndrome, classic type, 1 | COL5A1 | deletion, small (<=20) | yes | Felis_catus_9.0 | D4 | g.93210344delC | c.3420delG | p.Leu1141SerfsTer134 | 2018 | 30246406 | ||||
OMIA 001621-9685 | domestic cat | Devon Rex Sphynx | Muscular dystrophy-dystroglycanopathy (limb-girdle) | COLQ | missense | yes | Felis_catus_8.0 | C2 | g.133094150G>A | c.1190G>A | p.Cys397Tyr | rs869320615 | 2015 | 26327126 26374066 | Genomic location obtained via Ensembl's VEP | ||
OMIA 000881-9685 | domestic cat | Rod-cone dysplasia | CRX | Rdy | deletion, small (<=20) | yes | p.A182d1 | A single base deletion in the cone-rod homeobox-containing gene (CRX). p coordinates obtained from Occelli et al. (2016). | 2010 | 20053974 | |||||||
OMIA 002131-9685 | domestic cat | Domestic shorthair | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | missense | yes | B4 | g.137967506G>A | c.625G>A | p.(Gly209Ser) | Jaffey e al. (2019): "p.Gly209Ser amino acid change in transcript CYB5R3-202 (ENSFCAT00000056925) at position B4:137967506" | 2019 | 31650629 | ||||
OMIA 002131-9685 | domestic cat | Domestic shorthair | Methaemoglobinaemia, CYB5R3-related | CYB5R3 | splicing | yes | B4 | g.137970815G>C | 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 | |||||
OMIA 001661-9685 | domestic cat | Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency | CYP11B1 | missense | yes | G>A | 2012 | 22827537 | |||||||||
OMIA 000837-9685 | domestic cat | Vitamin D-deficiency rickets, type I | CYP27B1 | deletion, small (<=20) | yes | c.731delG | 2009 | 19138382 | |||||||||
OMIA 000837-9685 | domestic cat | Vitamin D-deficiency rickets, type I | CYP27B1 | nonsense (stop-gain) | yes | Felis_catus_6.2 | B4 | g.86472505G>T | c.637G>T | p. E213* | 2012 | 22553308 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 001081-9685 | domestic cat | Domestic Shorthair | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | yes | A deletion of the muscle promoter and first exon and the Purkinje neuronal first exon of the DMD gene | 1994 | 7881288 | ||||||||
OMIA 001081-9685 | domestic cat | Domestic shorthair | Muscular dystrophy, Duchenne type | DMD | deletion, gross (>20) | yes | 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 | ||||||||
OMIA 001776-9685 | domestic cat | Dihydropyrimidinase deficiency | DPYS | missense | yes | c.1303G>A | p.G435R | 2012 | 23430934 | ||||||||
OMIA 000364-9685 | domestic cat | Factor XII deficiency | F12 | deletion, small (<=20) | yes | c.1321delC | p.C441fsX119 | 2015 | 24793828 | ||||||||
OMIA 000364-9685 | domestic cat | Domestic shorthair | Factor XII deficiency | F12 | missense | yes | Felis_catus_6.2 | A1 | g.173159981G>C | c.1631G>C | p.G544A | 2017 | 28392508 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 000438-9685 | domestic cat | Haemophilia B | F9 | nonsense (stop-gain) | yes | c.??C>T | p.R338* | 2005 | 15822564 | ||||||||
OMIA 000438-9685 | domestic cat | Domestic Longhair | Haemophilia B | F9 | missense | yes | c.??G>A | p.C82Y | 2005 | 15822564 | |||||||
OMIA 002064-9685 | domestic cat | British Shorthair | Autoimmune lymphoproliferative syndrome | FASLG | insertion, small (<=20) | yes | g.14607400insA | c.413_414insA | p.Arg140Lysfs*37 | 2017 | 27770190 | ||||||
OMIA 000439-9685 | domestic cat | Maine Coon Persian Ragdoll Somali | Long hair | FGF5 | missense | no | c.194C>A | p.P65H | 2007 | 17433015 | |||||||
OMIA 000439-9685 | domestic cat | Long hair | FGF5 | deletion, small (<=20) | no | c.474delT | AM412646 c.474delT | 2007 | 17433015 | ||||||||
OMIA 000439-9685 | domestic cat | Long hair | FGF5 | insertion, small (<=20) | no | c.ins356T | 2007 | 17767004 | |||||||||
OMIA 000439-9685 | domestic cat | Long hair | FGF5 | missense | no | Felis_catus_6.2 | B1 | g.140077554A>C | c.475A>C | p.T159P | 2007 | 17433015 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 000439-9685 | domestic cat | Norwegian Forest | Long hair | FGF5 | nonsense (stop-gain) | no | Felis_catus_6.2 | B1 | g.140089230C>T | c.406C>T | p.R136* | 2007 | 17767004 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 000439-9685 | domestic cat | Norwegian Forest | Long hair | FGF5 | missense | no | Felis_catus_6.2 | B1 | g.140097052T>A | c.182T>A | p.V61D | 2007 | 17433015 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 000420-9685 | domestic cat | Norwegian Forest | Glycogen storage disease IV | GBE1 | complex rearrangement | yes | 200922: g. info moved here (g. IVS11+1552_IVS12-1339 del6.) until it can be standardised | 2007 | 17257876 | ||||||||
OMIA 000478-9685 | domestic cat | Toyger | Holoprosencephaly | GDF7 | deletion, small (<=20) | yes | Felis_catus_9.0 | A3 | g.127002233_127002239delGCCGCGC | c.221_227delGCCGCGC | p.(Arg74Profs*17) | "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) | 2020 | 32575532 | |||
OMIA 000402-9685 | domestic cat | Gangliosidosis, GM1 | GLB1 | missense | yes | Felis_catus_6.2 | C2 | g.155458074G>C | c.1448G>C | p.R483P | 2008 | 18353697 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 001427-9685 | domestic cat | Gangliosidosis, GM2, GM2A deficiency | GM2A | deletion, small (<=20) | yes | c.516_519delGGTC | p.V173Sfs*17 | 2005 | 16200419 | ||||||||
OMIA 001248-9685 | domestic cat | Domestic Shorthair | Mucolipidosis II | GNPTAB | nonsense (stop-gain) | yes | Felis_catus_6.2 | B4 | c.2644C>T | p.Gln882* | Wang et al. (2018): "NCBI-RefSeq accession no. XM_003989173.4, Gene ID: 101100231" | 2018 | 30591066 | ||||
OMIA 000821-9685 | domestic cat | Primary hyperoxaluria type II (Oxalosis II) | GRHPR | splicing | yes | "point mutation, G to A, . . . at the 3# splice acceptor site of intron 4" | 2009 | Reference not in PubMed; see OMIA 000821-9685 for reference details | |||||||||
OMIA 000667-9685 | domestic cat | Mucopolysaccharidosis VII | GUSB | missense | yes | c.1421T>G and c.1424C>T | p.S475A and p.R476W | 2015 | 26118695 | ||||||||
OMIA 000667-9685 | domestic cat | Mucopolysaccharidosis VII | GUSB | missense | yes | Felis_catus_6.2 | E3 | g.15661641G>A | c.1051G>A | p.E351K | 1999 | 10366443 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 001987-9685 | domestic cat | Japanese domestic | Bobtail | HES7 | JBT | missense | yes | Felis_catus_6.2 | E1 | g.2819475A>G | c.5A>G | p.V2A | 2016 | 27030474 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
OMIA 001462-9685 | domestic cat | Burmese | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | splicing | yes | c.1244-8_1250del15 | 2009 | 19231264 | ||||||||
OMIA 001462-9685 | domestic cat | Domestic Shorthair | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | complex rearrangement | yes | c.1467_1491inv25 | p.F488Lfs*4 | or p.F488Lfs*4 | 2004 | 15081585 | ||||||
OMIA 001462-9685 | domestic cat | Korat | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | HEXB | deletion, small (<=20) | yes | c.39delC | p.L14Sfs*82 | 1994 | 8178934 | |||||||
OMIA 001462-9685 | domestic cat | Japanese domestic | Gangliosidosis, GM2, type II (Sandoff or variant 0) | HEXB | nonsense (stop-gain) | yes | c.667C>T | p. R223* | 2007 | 16872651 | |||||||
OMIA 001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | deletion, small (<=20) | yes | c.107_110delACAG | p.D36Vfs 6 | 2013 | 24239138 | ||||||||
OMIA 001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | insertion, small (<=20) | yes | c.189dupT | 2010 | 19934113 | |||||||||
OMIA 001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | deletion, small (<=20) | yes | c.842_844delGAG | 2013 | 24239138 | |||||||||
OMIA 001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | missense | yes | Felis_catus_6.2 | D1 | g.16391905G>A | c.250G>A | p.A84T | 2013 | 24239138 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | missense | yes | Felis_catus_6.2 | D1 | g.16392832C>T | c.445C>T | p.R149W | 2013 | 24239138 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 001493-9685 | domestic cat | Porphyria, acute intermittent | HMBS | splicing | yes | Felis_catus_6.2 | D1 | g.16394866G>A | c.826-1G>A | 2013 | 24239138 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
OMIA 002229-9685 | domestic cat | Lykoi | Hypotrichia and Roaning | HRhairless | hr^TN | duplication | yes | Felis_catus_9.0 | B1 | g.36040783dupGT | c.1255_1256dupGT | p.(Gln420Serfs*100) | 2020 | 32580512 | |||
OMIA 002229-9685 | domestic cat | Lykoi | Hypotrichia and Roaning | HRhairless | hr^Fr | splicing | yes | Felis_catus_9.0 | B1 | g.36040933delTinsGT | c.1404+2delTinsGT | "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 | |||
OMIA 002229-9685 | domestic cat | Lykoi | Hypotrichia and Roaning | HRhairless | hr^TX | splicing | yes | Felis_catus_9.0 | B1 | g.36045776G>A | 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 and is designated hrTX allele. Alternatively, a cryptic splice site may be used from within intron 8." (Buckley et al., 2020) | 2020 | 32580512 | |||
OMIA 002229-9685 | domestic cat | Lykoi | Hypotrichia and Roaning | HRhairless | hr^NC | nonsense (stop-gain) | yes | Felis_catus_9.0 | B1 | g.36047047C>T | c.2243C>T | p.(Arg748X) | 2020 | 32580512 | |||
OMIA 002229-9685 | domestic cat | Lykoi | Hypotrichia and Roaning | HRhairless | hr^Ca | nonsense (stop-gain) | yes | Felis_catus_9.0 | B1 | g.36047518C>T | c.2593C>T | p. (Gln865X) | 2020 | 32580512 | |||
OMIA 002229-9685 | domestic cat | Lykoi | Hypotrichia and Roaning | HRhairless | hr^VA | insertion, small (<=20) | yes | Felis_catus_9.0 | B1 | g.36051556insGACA | c.3389insGACA | p.(Ser1130Argfs*29) | 2020 | 32580512 | |||
OMIA 000664-9685 | domestic cat | Mucopolysaccharidosis I | IDUA | deletion, small (<=20) | yes | a 3 bp deletion in the IDUA gene | 1999 | 10356309 | |||||||||
OMIA 001000-9685 | domestic cat | Domestic Shorthair | Glanzmann's thrombasthenia | ITGA2B | deletion, small (<=20) | yes | Felis_catus_9.0 | E1 | g.44416063del | c.1986delC | p.Pro662fs | ENSFCAT00000003056.6:c.1986delC; p.Pro662fs (Li et al., 2020) | 2020 | 32935881 | |||
OMIA 000595-9685 | domestic cat | Leukocyte adhesion deficiency, type I | ITGB2 | ITGB-2 missing exon 2 | deletion, gross (>20) | yes | Felis_catus_8.0 | C2 | g.1715627_1715650delGCCCTCTGGT | c.46_58Â +Â 11del | 2017 | 28750142 | |||||
OMIA 002267-9685 | domestic cat | Bengal | Progressive retinal atrophy | KIF3B | missense | yes | Felis_catus_9.0 | A3 | c.1000G>A | p.(Ala334Thr) | ENSFCAT00000022266; c.1000G>A (p.Ala334Thr) | 2020 | 32386558 | ||||
OMIA 000209-9685 | domestic cat | Domestic Longhair | Coat colour, dominant white | KIT | insertion, gross (>20) | yes | B1 | "a FERV1 long terminal repeat (LTR) is associated with all Dominant White individuals" | 2014 | 25085922 | |||||||
OMIA 001737-9685 | domestic cat | Coat colour, white spotting, KIT-related | KIT | insertion, gross (>20) | no | "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." | 2014 | 25085922 | |||||||||
OMIA 001580-9685 | domestic cat | Birman | Gloving | KIT | g | delins, small (<=20) | no | FelCat5 | B1 | c.1035_1036delinsCA | p.Glu345Asp,His346Asn | Montague et al. (2014) describe this variant as "two adjacent missense mutations". | 2010 | 21147473 | |||
OMIA 002281-9685 | domestic cat | Domestic Shorthair | Epidermolysis bullosa, simplex, KRT14-related | KRT14 | nonsense (stop-gain) | yes | c.979C>T | p.(Gln327*) | XM_003996860.5:c.979C>T or XP_003996909.2:p.(Gln327*) (Dettwiler et al., 2020) | 2020 | 32657488 | ||||||
OMIA 001581-9685 | domestic cat | Curly coat, Devon rex | KRT71 | complex rearrangement | no | c.1108-4_1184del;c.1184_1185in | This complex variant causes a slicing variation | 2010 | 20953787 | ||||||||
OMIA 001712-9685 | domestic cat | Curly coat, Selkirk rex | KRT71 | splicing | no | c.445-1G>C | 2013 | 23770706 | |||||||||
OMIA 001583-9685 | domestic cat | Sphynx hairless | KRT71 | splicing | yes | Felis_catus_6.2 | B4 | g.81502136G>A | c.816+1G>A | 2010 | 20953787 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
OMIA 002273-9685 | domestic cat | Ural Rex | Curly coat, Ural Rex | LIPH | deletion, small (<=20) | no | Felis_catus_9.0 | C2 | g.84136342_84136347del | c.478_483del | p.(Ser160_Gly161del) | 2020 | 32463158 | ||||
OMIA 000939-9685 | domestic cat | Spinal muscular atrophy | LIX1 | deletion, gross (>20) | yes | a ~140 kb deletion removing exons 4-6 of LIX1 and all except exon 1 of LNPEP | 2006 | 16899656 | |||||||||
OMIA 002221-9685 | domestic cat | Domestic Shorthair | Vitamin D-deficiency rickets, type Ib | LOC101093889 | deletion, small (<=20) | yes | c.1386del | (p.Phe462Leufs*20) | 2019 | 30777056 | |||||||
OMIA 001684-9685 | domestic cat | Cornish Rex German Rex | Curly/woolly coat, Cornish Rex and German Rex | LPAR6 | deletion, small (<=20) | no | c.250_253_delTTTG | 2013 | 23826204 | ||||||||
OMIA 001210-9685 | domestic cat | Hyperlipoproteinaemia | LPL | missense | yes | c.1234G>A | p.G412R | 1996 | 8636438 | ||||||||
OMIA 002017-9685 | domestic cat | Glaucoma 3, primary congenita | LTBP2 | insertion, small (<=20) | yes | B3 | "a 4-bp insertion in exon 8 located at chrB3: 120995236" 200922: g. info moved here (g.120995236) until it can be standardised | 2016 | 27149523 | ||||||||
OMIA 001429-9685 | domestic cat | Blotched tabby | LVRN | missense | no | A1 | p.D228N | 2012 | 22997338 | ||||||||
OMIA 001429-9685 | domestic cat | Blotched tabby | LVRN | nonsense (stop-gain) | no | A1 | p.S59* | 2012 | 22997338 | ||||||||
OMIA 001429-9685 | domestic cat | Blotched tabby | LVRN | nonsense (stop-gain) | no | A1 | p.W841* | 2012 | 22997338 | ||||||||
OMIA 000185-9685 | domestic cat | Persian | Chediak-Higashi disease | LYST | repeat variation | 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 | ||||
OMIA 000625-9685 | domestic cat | Mannosidosis, alpha | MAN2B1 | deletion, small (<=20) | yes | c.1749_1752delCCAG | p.Q584Afs*179 | 1997 | 9396732 | ||||||||
OMIA 001199-9685 | domestic cat | Burmese | Coat colour, russet | MC1R | e^r | deletion, small (<=20) | no | c.439_441del | p.Phe146del | 2017 | 27671997 | ||||||
OMIA 001199-9685 | domestic cat | Norwegian Forest | Coat colour, amber | MC1R | e | missense | no | Felis_catus_6.2 | E2 | g.63721093G>A | c.250G>A | p.D84N | 2009 | 19422360 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
OMIA 001199-9685 | domestic cat | Kurilian Bobtail | Coat colour, copal | MC1R | e^c | deletion, small (<=20) | no | Felis_catus_8.0 | c.640_669del | p.(Ala214_Ala223del) | Genbank accession no. MK890105 | 2019 | 31361350 | ||||
OMIA 001962-9685 | domestic cat | Domestic Shorthair | Neuronal ceroid lipofuscinosis, 7 | MFSD8 | deletion, small (<=20) | yes | Felis_catus_9.0 | B1 | c.780delT | p.(Gln262Lysfs*33) | Guevar et al. (2019): "XM_019828986.2:c.780delT or XP_019684545.1:p.(Gln262Lysfs*33)" | 2020 | 31860737 | ||||
OMIA 000031-9685 | domestic cat | Coat colour, dilute | MLPH | d | deletion, small (<=20) | no | c.83delT | 2006 | 16860533 | ||||||||
OMIA 000515-9685 | domestic cat | Maine Coon | Cardiomyopathy, hypertrophic | MYBPC3 | missense | yes | c.91G>C | p.A31P | 2005 | 16236761 | |||||||
OMIA 000515-9685 | domestic cat | Ragdoll | Cardiomyopathy, hypertrophic | MYBPC3 | missense | yes | c.??C>T | p.R820W | 2007 | 17521870 | |||||||
OMIA 002212-9685 | domestic cat | Domestic Shorthair | Cardiomyopathy, hypertrophic, MYH7-related | MYH7 | missense | yes | c.5647G>A | p.(Glu1883Lys) | NM_000257.3:c.5647G>A (p.(Glu1883Lys)) | 2019 | 31164718 | ||||||
OMIA 000725-9685 | domestic cat | Niemann-Pick disease, type C1 | NPC1 | missense | yes | Felis_catus_6.2 | D3 | g.47439721G>C | c. 2864G>C | p.C955S | 2003 | 12809639 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 000725-9685 | domestic cat | Domestic shorthair | Niemann-Pick disease, type C1 | NPC1 | missense | yes | Felis_catus_6.2 | D3 | g.47455793A>C | c.1322A>C | p.H441P | 2017 | 28233346 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 002065-9685 | domestic cat | Niemann-Pick disease, type C2 | NPC2 | splicing | yes | Felis_catus_6.2 | B3 | g.120939103G>A | c.82+5G>A | p.G28_S29ins35 | 2014 | 25396745 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 002117-9685 | domestic cat | Domestic Shorthair | Inflammatory linear verrucous epidermal nevi | NSDHL | missense | yes | Felis_catus_9.0 | X | c.397A>G | p.Ser133Gly | De Lucia et al. (2019): XM_004000985.5:c.397A>G; XP_004001034.1:p.(Ser133Gly) | 2019 | 30474267 | ||||
OMIA 002303-9685 | domestic cat | Cerebral dysgenesis | PEA15 | deletion, small (<=20) | yes | felCat9 | F1 | g.66768324delT | c.176delA | p.(Asn59fs) | Genomic position described by Graff et al. (2020) as felCat9 chrF1:66768323 GT -> G. cDNA and protein positions are based on XM_023247767.1 and XP_023103535.1, respectively. | 2020 | 33290415 | ||||
OMIA 000807-9685 | domestic cat | Persian | Polycystic kidney disease | PKD1 | nonsense (stop-gain) | yes | c.10063C>A | p.?3284* | 2004 | 15466259 | |||||||
OMIA 000844-9685 | domestic cat | Abyssinian Brazilian Somali | Pyruvate kinase deficiency of erythrocyte | PKLR | splicing | yes | c.693+304G>A | 2012 | 23110753 | ||||||||
OMIA 000810-9685 | domestic cat | Polydactyly | SHH | regulatory | yes | c.257G>C | CC(G-C)GTG | 2008 | 18156157 | ||||||||
OMIA 000810-9685 | domestic cat | Polydactyly | SHH | regulatory | yes | c.479A>G | AGACAC(A-G)GAAATGAG | 2008 | 18156157 | ||||||||
OMIA 000810-9685 | domestic cat | Polydactyly | SHH | regulatory | yes | c.481A>T | AGACACAG(A-T)AATGAG | 2008 | 18156157 | ||||||||
OMIA 000256-9685 | domestic cat | Domestic shorthair | Cystinuria, type I - A | SLC3A1 | missense | yes | Felis_catus_6.2 | A3 | g.66470414C>T | c.1342C>T | p.R448W | 2015 | 25417848 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 002023-9685 | domestic cat | Maine Coon Siamese Sphinx | Cystinuria, type B | SLC7A9 | missense | yes | Felis_catus_6.2 | E2 | g.19520350G>A | c.706G>A | p.D236N | 2016 | 27404572 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 002023-9685 | domestic cat | Maine Coon | Cystinuria, type B | SLC7A9 | missense | yes | Felis_catus_6.2 | E2 | g.19521709C>T | c.881T>A | p.V294E | 2016 | 27404572 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 002023-9685 | domestic cat | Cystinuria, type B | SLC7A9 | missense | yes | Felis_catus_6.2 | E2 | g.19530911C>T | c.1175C>T | p.T392M | 2016 | 27404572 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
OMIA 001795-9685 | domestic cat | Niemann-Pick disease, type A | SMPD1 | nonsense (stop-gain) | yes | c.1017G>A | p.(W339X) | 2020 | 32347185 | ||||||||
OMIA 000975-9685 | domestic cat | Tail, short | T | deletion, small (<=20) | yes | c.1169delC | 2013 | 23949773 | |||||||||
OMIA 000975-9685 | domestic cat | Tail, short | T | deletion, small (<=20) | yes | c.1199delC | 2013 | 23949773 | |||||||||
OMIA 000975-9685 | domestic cat | Tail, short | T | deletion, small (<=20) | yes | c.998delT | 2013 | 23949773 | |||||||||
OMIA 000975-9685 | domestic cat | Tail, short | T | delins, small (<=20) | no | c.998_1014dup17delGCC | 2013 | 23949773 | |||||||||
OMIA 002219-9685 | domestic cat | Domestic Shorthair | Hypogonadotropic hypogonadism, TAC3-related | TAC3 | missense | yes | Felis_catus_9.0 | B4 | g.85517451C>T | c.220G>A | p.(Val74Met) | Hug et al. (2019): XM_003988924.5:c.220G>A; XP_003988973.1:p.(Val74Met) | 2019 | 31615056 | |||
OMIA 001617-9685 | domestic cat | Sweet taste, lack of | TAS1R2 | deletion, gross (>20) | yes | the TAS1R2 gene has "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" | 2005 | 16103917 | |||||||||
OMIA 002304-9685 | domestic cat | Maine Coon | Cardiomyopathy, hypertrophic | TNNT2 | splicing | yes | Felis_catus_9.0 | F1 | g.42204052C>T | c.95-108G>A | This particular variant was a single base pair substitution (G to A) within intron 3, corresponding to c.95-108G > A of ENSFCAG00000004613 (McNamara et al., 2020) | 2020 | 33304277 | ||||
OMIA 000536-9685 | domestic cat | Domestic shorthair | Hypothyroidism | TPO | missense | yes | c.1333G>A | p.A445T | 2015 | Reference not in PubMed; see OMIA 000536-9685 for reference details | |||||||
OMIA 000319-9685 | domestic cat | Scottish Fold | Ears, folded | TRPV4 | Fd | missense | yes | Felis_catus_6.2 | D3 | g.25138541G>T | c.1024G>T | p.V342F | 2016 | 27063440 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
OMIA 000202-9685 | domestic cat | Coat colour, complete albinism | TYR | c | deletion, small (<=20) | yes | D1 | "a cytosine deletion in TYR at position 975 in exon 2" | 2006 | 16573534 | |||||||
OMIA 000202-9685 | domestic cat | Siamese | Siamese coat colour pattern | TYR | c^s | missense | no | D1 | c. 940G>A | p.G302R | 2005 | 15771720 | |||||
OMIA 000202-9685 | domestic cat | Albinism | TYR | c^2 | nonsense (stop-gain) | yes | Felis_catus_6.2 | D1 | g.46311692C>T | c.1204C>T | p.R402* | 2017 | 27634063 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||
OMIA 000202-9685 | domestic cat | Burmese | Burmese coat colour pattern | TYR | c^b | missense | no | Felis_catus_6.2 | D1 | g.46406472G>T | c.679G>T | p.G227W | 2005 | 15771720 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
OMIA 000202-9685 | domestic cat | Burmese | Mocha | TYR | c^m | duplication | 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 | ||
OMIA 001249-9685 | domestic cat | Chocolate | TYRP1 | b | splicing | no | p.Ala420_Asp421ins17/18 | Lyons et al. (2005): "An intron 6 mutation that potentially disrupts the exon 6 downstream splice-donor recognition site" Li et al. (2018; Pigment Cell Melanoma Res., 1–10): "donor splice site mutation. p.Ala420_Asp421ins17/18" | 2005 | 16104383 | |||||||
OMIA 001249-9685 | domestic cat | Cinnamon (light brown) | TYRP1 | b1 | nonsense (stop-gain) | no | c.298C>T | p.R100* | 2005 | 16104383 | |||||||
OMIA 000187-9685 | domestic cat | Munchkin | Munchkin standard | UGDH | delins, gross (>20) | yes | Felis_catus_9.0 | B1 | g.174882895_174886198delins108 | NC_018726.3:g.174882895_174886198delins108, Felis catus 9.0 (Struck et al., 2020) | 2020 | 32605545 | |||||
OMIA 001586-9685 | domestic cat | Deficient acetaminophen glucuronidation | UGT1A6 | complex rearrangement | yes | "UGT1A6 is a pseudogene" | 2000 | 10862526 | |||||||||
OMIA 001175-9685 | domestic cat | Porphyria, congenital erythropoietic | UROS | missense | yes | c.140C>T + c.331G>A | p.S47F + p.G111S | 2010 | 20485863 | ||||||||
OMIA 001759-9685 | domestic cat | Hypokalaemic periodic paralysis | WNK4 | nonsense (stop-gain) | yes | c.2899C>T | p.Q??* | 2012 | 23285264 |
Overall Statistics | |
---|---|
Total number of variants | 131 |
Variants with genomic location | 56 (42.7% ) |
Variants in a variant database, i.e. with rs ID | 1 (0.8%) |
Variant Type | Count | Percent |
---|---|---|
complex rearrangement | 4 | 3.1% |
deletion, gross (>20) | 5 | 3.8% |
deletion, small (<=20) | 28 | 21.4% |
delins, gross (>20) | 1 | 0.8% |
delins, small (<=20) | 2 | 1.5% |
duplication | 2 | 1.5% |
insertion, gross (>20) | 2 | 1.5% |
insertion, small (<=20) | 5 | 3.8% |
missense | 44 | 33.6% |
nonsense (stop-gain) | 17 | 13.0% |
regulatory | 6 | 4.6% |
repeat variation | 1 | 0.8% |
splicing | 14 | 10.7% |
Year First Reported | Count | Percent |
---|---|---|
1994 | 2 | 1.5% |
1995 | 0 | 0.0% |
1996 | 2 | 1.5% |
1997 | 1 | 0.8% |
1998 | 0 | 0.0% |
1999 | 2 | 1.5% |
2000 | 1 | 0.8% |
2001 | 0 | 0.0% |
2002 | 0 | 0.0% |
2003 | 2 | 1.5% |
2004 | 2 | 1.5% |
2005 | 9 | 6.9% |
2006 | 3 | 2.3% |
2007 | 16 | 12.2% |
2008 | 4 | 3.1% |
2009 | 4 | 3.1% |
2010 | 6 | 4.6% |
2011 | 0 | 0.0% |
2012 | 8 | 6.1% |
2013 | 11 | 8.4% |
2014 | 5 | 3.8% |
2015 | 5 | 3.8% |
2016 | 11 | 8.4% |
2017 | 6 | 4.6% |
2018 | 3 | 2.3% |
2019 | 10 | 7.6% |
2020 | 18 | 13.7% |