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78 variant records found |
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1060 | OMIA:001271-9915 | indicine cattle (zebu) | Miniature Zebu, United Kingdom of Great Britain and Northern Ireland (Cattle) | Bulldog calf | ACAN | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | ARS-UCD1.2 | 21 | g.20428539_20428540insC | c.5688_5689insC | p.(V1897fs*9) | cDNA position based on transcript NM_173981.2 | 2018 | 30305023 | |||
1076 | OMIA:001645-10036 | golden hamster | Black tremor | Atrn | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | Kuramoto et al. (2002): "an approximately 10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, [that] was inserted into exon 24" | 2002 | 11773967 | ||||||||||
1131 | OMIA:002216-9544 | Rhesus monkey | Bardet-Biedl syndrome 7 | BBS7 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | Mmul_8.0.1 | c.160delG | p.(A54fs) | 2019 | 31589838 | |||||||
1490 | OMIA:002573-151761 | yellow-crowned parrot | Lewy body-like disease | CADPS2 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.1675G>C | p.(V559L) | 2022 | 36086934 | ||||||||
490 | OMIA:000685-9915 | indicine cattle (zebu) | Brahman (Cattle) | Myasthenic syndrome, congenital, CHRNE-related | CHRNE | 470del20 | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | ARS-UCD1.2 | 19 | g.26485848_26485867del | c.470_489del | Kraner et al. (2002): "a loss of 20 bp within the coding sequence of exon 5 (Fig. 2), between nucleotide 469 and 490 (nucleotide numbering referring to the cDNA sequence published under accession number X02597". These authors (and subsequent authors) call this variant "470del20". The current (2020) HGVS nomenclature is c.470_489del 200922: g. information move here (g.27119615) until standardised | rs5334475050 | 2002 | 12481987 | Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. | ||
399 | OMIA:000698-89462 | water buffalo | Murrah (Buffalo) | Myotonia | CLCN1 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | UOA_WB_1 | 8 | NC_037552.1:g.106762128C>T | NM_001290916.1:c.396C>T | abnormal splicing associated with synonymous SNP (Ser132, c.396C>T) | 2013 | 23339992 | ||||
1030 | OMIA:001962-9542 | Japanese macaque | Neuronal ceroid lipofuscinosis, 7 | CLN7 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | 4 | c.769delA | p.(I257Lfs*36) | 2018 | 30048804 | |||||||
1795 | OMIA:001718-8090 | Japanese medaka | Skeletal defects, col10a1a-related | col10a1a | deletion, small (<=20) | frameshift | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | p.(C633fs) | 5 base pair deletion | 2024 | 38510140 | ||||||||
1506 | OMIA:001274-452646 | American mink | Coat colour, black crystal | COPA | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | NNQGG.v01 | FNWR01000261.1 | g.4876673G>A | c.478C>T | p.(R160C) | 2022 | 35729186 | |||||
1176 | OMIA:000168-10141 | domestic guinea pig | Cataract | Cryz | deletion, gross (>20) | splicing | Naturally occurring variant | Not currently ISAG evaluated | "a 102-bp deletion towards the 3' end of the coding region. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter." (Rodriguez et al., 1992) | 1992 | 1390943 | |||||||||
1751 | OMIA:000017-8128 | Nile tilapia | Steroid hormone-deprived sex reversal, CYP11A1-related | cyp11a1 | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | 22 bp deletion in exon 4 | 2024 | 39284885 | ||||||||||
1743 | OMIA:002894-10036 | golden hamster | Dcaf17 deficiency | Dcaf17 | deletion, small (<=20) | frameshift | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | BCM_Maur_2.0 | NW_024429189.1:g.39589667_39589671del | XM_040745545.1:c.71_75del | XP_040601479.1:p.(D24Gfs*24) | 2024 | 39239833 | ||||||
724 | OMIA:001695-8090 | Japanese medaka | Reduced scale-3 | edar | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | "several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized" | 2001 | 11516953 | ||||||||||
148 | OMIA:000361-9783 | Asiatic elephant | Factor VII deficiency | F7 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.202A>G | p.(R68G) | 2017 | 28118558 | ||||||||
559 | OMIA:000439-10036 | golden hamster | Hair, long | Fgf5 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | c.546delG | p.(R184Gfs*6) | 2015 | 26481120 | ||||||||
517 | OMIA:000578-9544 | Rhesus monkey | Krabbe disease | GALC | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | c.387delAC | 1997 | 9192853 | ||||||||||
190 | OMIA:001473-9915 | indicine cattle (zebu) | Brahman (Cattle) | Dwarfism, growth-hormone deficiency | GH1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.641C>T | p.(T200M) | Bos indicus cDNA position based on AF034386, protein position based on AAB92549 | 2009 | 19524387 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
677 | OMIA:001920-27706 | largemouth bass | Abortion due to deletion in GHRH | GHRH | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | a 66bp deletion (c.-923_-858del) in the 5' flanking region of the GHRH gene in an autosomal recessive embryonic lethal | 2014 | 24697798 | ||||||||||
1802 | OMIA:002957-7994 | Mexican tetra | Anophthalmia/microphthalmia | gja8b | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | p.(S89K) | 2024 | 39554031 | |||||||||
1803 | OMIA:002957-7994 | Mexican tetra | Anophthalmia/microphthalmia | gja8b | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | p.(T39M) | 2024 | 39554031 | |||||||||
1178 | OMIA:001461-9217 | American flamingo | Tay-Sachs disease | HEXA | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.1406C>T | p.(P469L) | 2008 | 18693054 | ||||||||
1584 | OMIA:001243-9601 | Sumatran orangutan | Alkaptonuria | HGD | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | Susiae_PABv2/ponAbe3 | 3 | g.17314095G>A | c.1081G>A | p.(G361R) | 2023 | 37354891 | |||||
789 | OMIA:002116-69293 | three-spined stickleback | Coat colour, albinism, oculocutaneous, HPS5-related | Hps5 | casper | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | "casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift" | 2017 | 28739598 | ||||||||
331 | OMIA:001348-9544 | Rhesus monkey | Atrichia with papular lesions | HR | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | MMUL_1 | 8 | g.22046679C>T | c.1831C>T | p.(R611*) | 2002 | 11831740 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
1786 | OMIA:000664-9542 | Japanese macaque | Mucopolysaccharidosis I | IDUA | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.786 C>A | p.(H262Q) | 2025 | 40251406 | ||||||||
1622 | OMIA:002763-9541 | crab-eating macaque | Severe combined immunodeficiency disease | IL2RG | substitution | nonsense (stop-gain) | Base-editing | Not currently ISAG evaluated | Macaca_fascicularis_5.0 | X | g.68110639G>A | c.391C>T | p.(Q131*) | XM_005593892.2; XP_005593949.1 | 2023 | 37661226 | ||||
962 | OMIA:001675-61379 | black-footed cat | Cone-rod dystrophy 2 | IQCB1 | deletion, small (<=20) | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | c.1282delCT | p.(L428*) | 2017 | 28322220 | ||||||||
1711 | OMIA:000284-10036 | golden hamster | Diabetes mellitus, type 2 | Irs2 | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | 2653-bp deletion in exon 1 | 2024 | 39134590 | ||||||||||
1505 | OMIA:000449-452646 | American mink | Shadow coat colour | KIT | S^h | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | NNQGG.v01 | NWR01000037.1 | g.6253028G>T | c.2374G>T | p.(D792Y) | 2022 | 35481560 | ||||
1556 | OMIA:000499-9544 | Rhesus monkey | Hypercholesterolaemia | LDLR | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | 19 | p.(W284*) | G>A in exon 6 in position 914 of the human cDNA resulting in p.(W284*) | 1990 | 2326270 | |||||||
1557 | OMIA:000499-9544 | Rhesus monkey | Hypercholesterolaemia | LDLR | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | 19 | c.245G>A | p.(C82Y) | 2023 | 37186395 | |||||||
1672 | OMIA:002796-9541 | crab-eating macaque | Cardiomyopathy, dilated, LMNA-related | LMNA | substitution | splicing | Base-editing | Not currently ISAG evaluated | MFA1912RKSv2 | 1 | NC_052255.1:g.93546791T>C | XM_045371898.1:c.357-2A>G | 2024 | 38559624 | ||||||
518 | OMIA:000185-452646 | American mink | Chediak-Higashi syndrome | LYST | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | c.9468delC | 2013 | 22762706 | ||||||||||
249 | OMIA:000625-10141 | domestic guinea pig | Mannosidosis, alpha | Man2b1 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.679C>T | p.(R227W) | 2002 | 11959458 | ||||||||
1287 | OMIA:002309-9646 | giant panda | Cataract | MIP | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.686G>A | p.(S229N) | 2021 | 33530927 | ||||||||
385 | OMIA:001401-10036 | golden hamster | Waardenburg syndrome, type 2A | MITF | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination. | 2003 | 12871913 | |||||||||
505 | OMIA:000755-93934 | Japanese quail | Osteopetrosis | MITF | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | same MITF variant as for silver, as reported in 1998 | 2001 | 11169846 | ||||||||||
1205 | OMIA:001680-452646 | American mink | Hedlund | MITF | h | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | MusPutFur1.0.86 | c.33+1G>A | GL896899.1:18635719 G/A (MITF-M C.33 + 1 G > A (Manakhov et al., 2017) | 2019 | 30872653 | ||||||
1209 | OMIA:001654-8932 | rock pigeon | Almond | MLANA | st | repeat variation | Naturally occurring variant | Not currently ISAG evaluated | "The CNV captures a 77-kb segment of the reference genome (ScoHet5_227: 5,181,467–5,259,256), with an additional increase in coverage in a nested 25-kb segment (ScoHet5_227: 5,201,091–5,226,635). Read-depth analysis confirmed 7 copies of the outer 77-kb segment and 14 copies of the inner 25-kb segment in the genomes of female (ZStW) Almond pigeons, which have an St locus on only one chromosome. We used PCR to amplify across the outer and inner CNV breakpoints of Almond pigeons and determined that the CNV consists of tandem repeats of the 77-kb and nested 25-kb segments (Fig 3)." (Bruders et al., 2020) | 2020 | 32433666 | |||||||||
1014 | OMIA:002145-9544 | Rhesus monkey | Colorectal cancer, MLH1-related | MLH1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | 2 | c.1029C<G | p.(Y343*) | Dray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein". Ozirmak Lermi et al. (2022) reported the c. and p. coordinates of this variant. | 2018 | 30108684 | ||||||
1013 | OMIA:002145-9544 | Rhesus monkey | Colorectal cancer, hereditary nonpolyposis, MLH1-related | MLH1 | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | 2 | g.99561829_99561830del | Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)" | 2018 | 29490919 | ||||||||
1015 | OMIA:002160-9544 | Rhesus monkey | Colorectal cancer, hereditary nonpolyposis, MSH6-related | MSH6 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" | 2018 | 30108684 | |||||||||
519 | OMIA:001342-8790 | emu | Mucopolysaccharidosis IIIB | NAGLU | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | c.1098_1099delGG | 2001 | 11414757 | ||||||||||
316 | OMIA:000545-93934 | Japanese quail | Hypotrophic axonopathy | NEFL | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | c.352C>T | p.(Q114*) | 1993 | 8468353 | ||||||||
1602 | OMIA:002130-9544 | Rhesus monkey | Coat colour, oculocutaneous albinism | OCA2 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.2363C>T | p.(S788L) | 2020 | 32259106 | ||||||||
1022 | OMIA:002163-9544 | Rhesus monkey | Cone dystrophy 4, PDE6C-related | PDE6C | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | Mmul_8.0.1 | 9 | p.(R565Q) | 2019 | 30667376 | |||||||
1507 | OMIA:000944-447135 | Bank vole | Susceptibility to atypical scrapie | PRNP | not known | missense | Naturally occurring variant | Not currently ISAG evaluated | p.(M109I) | 2022 | 35731839 | |||||||||
1621 | OMIA:002763-9541 | crab-eating macaque | Severe combined immunodeficiency disease | RAG1 | substitution | nonsense (stop-gain) | Base-editing | Not currently ISAG evaluated | Macaca_fascicularis_5.0 | 14 | g.30840789G>T | c.181C>T | p.(Q61*) | XM_005578172.2; XP_005578229.1 | 2023 | 37661226 | ||||
1796 | OMIA:002945-8128 | Nile tilapia | Hypogonadism | rln3b | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | Not currently ISAG evaluated | >500 bp deletion | 2024 | 38729472 | ||||||||||
1427 | OMIA:002531-74940 | Chinook salmon | XY female | sdY | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | p.(I183N) | 2022 | 35100376 | |||||||||
651 | OMIA:000162-10036 | golden hamster | Cardiomyopathy, dilated | SGCD | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | genomic deletion was found to be located at 6.1 kb 5' upstream of the second exon of δ-SG gene, and its 5' upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted | 1997 | 9391120 | ||||||||||
652 | OMIA:002211-10036 | golden hamster | Cardiomyopathy, hypertrophic | SGCD | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | a large deletion in the delta-SG gene | 1997 | 9097966 | ||||||||||
746 | OMIA:001821-8090 | Japanese medaka | Coat colour, albinism, oculocutaneous type IV | slc45a2 | complex rearrangement | Naturally occurring variant | Not currently ISAG evaluated | an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp | 2008 | 18245373 | ||||||||||
386 | OMIA:000370-93934 | Japanese quail | Feather colour, albinism, sex-linked, imperfect | SLC45A2 | substitution | splicing | Naturally occurring variant | Not currently ISAG evaluated | a splice-site mutation in the SLC45A2 gene: "a G>T transversion at the splice acceptor site just preceding exon 4" | 2007 | 17151254 | |||||||||
259 | OMIA:000370-93934 | Japanese quail | Feather colour, cinnamon | SLC45A2 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.287C>A | p.(A72D) | 2007 | 17151254 | ||||||||
861 | OMIA:001821-9593 | western gorilla | Coat colour, albinism, oculocutaneous type IV | SLC45A2 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | gorGor3.1 | 17 | g.59753498G>C | c.1552G>C | p.(G518R) | 2013 | 23721540 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||||
1438 | OMIA:002537-9541 | crab-eating macaque | Encephalopathy, STXBP1-related | STXBP1 | substitution | missense | Base-editing | Not currently ISAG evaluated | Macaca_fascicularis5.0 | 15 | g.101106196C>T | c.875G>A | p.(R292H) | XM_005582167.2; XP_005582224.1 | 2022 | 35283272 | ||||
670 | OMIA:001617-9694 | tiger | Sweet taste, lack | TAS1R2 | reference sequence allele | Naturally occurring variant | Not currently ISAG evaluated | "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" | 2005 | 16103917 | ||||||||||
668 | OMIA:001617-32536 | cheetah | Sweet taste, lack | TAS1R2 | reference sequence allele | Naturally occurring variant | Not currently ISAG evaluated | "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" | 2005 | 16103917 | ||||||||||
1620 | OMIA:000240-8839 | Mallard | Crest cushion | TAS2R40 | substitution | regulatory | Naturally occurring variant | Not currently ISAG evaluated | 1 | published as variant in the 5′UTR of TAS2R40 (123272114_c. G78A) | 2023 | 37652165 | ||||||||
397 | OMIA:000162-9103 | turkey | Cardiomyopathy, dilated | TNNT2 | deletion, small (<=20) | splicing | Naturally occurring variant | Not currently ISAG evaluated | delGGGCTCCTC | 2002 | 11886865 | |||||||||
1538 | OMIA:001472-9541 | crab-eating macaque | Neuronal ceroid lipofuscinosis, 2 | TPP1 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | c.42delC | p.(L15Sfs*33) | 2023 | 36918063 | ||||||||
1304 | OMIA:000202-476259 | Japanese raccoon dog | Albinism | TYR | complex rearrangement | Naturally occurring variant | Not currently ISAG evaluated | Mae et al. (2020): "the third exon was removed due to a deletion ... :two separate regions of 3.8 kb and 7.3 kb had been removed, but a segment of 0.3 kb between these two regions was retained, though was present in the reverse orientation." | 2020 | 32783776 | ||||||||||
1027 | OMIA:000202-9773 | humpback whale | Migaloo, the white whale | TYR | deletion, small (<=20) | Naturally occurring variant | Not currently ISAG evaluated | "(264 del C) at codon 88" | 2012 | 22140253 | ||||||||||
666 | OMIA:000202-9669 | domestic ferret | Coat colour, albinism | TYR | deletion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | "deletion of exon 4" | 2007 | 17655555 | ||||||||||
1746 | OMIA:000202-8296 | axolotl | Skin colour, albino | TYR | deletion, gross (>20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | Linkage group 7 | "a 142 bp deletion of tyr a coding sequence at the end of exon 1 (extending ~3 kb in to intron 1) that results in a frame-shift and premature stop codon" (Woodcock et al., 2017) | 2017 | 28127056 | ||||||||
1555 | OMIA:000202-8090 | Japanese medaka | Skin colour, albino (weak) | tyr | i(b) | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | a 4.7-kb insertion in the 5' untranslated region (Tol2) | 2004 | 15016305 | |||||||||
1554 | OMIA:000202-8090 | Japanese medaka | Skin colour, albino (quasi-albino) | tyr | i4 | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | a 4.7-kb insertion in exon 5 (Tol2-tyr) | 1996 | 8779712 | |||||||||
723 | OMIA:000202-8090 | Japanese medaka | Skin colour, albinism | tyr | i1 | insertion, gross (>20) | Naturally occurring variant | Not currently ISAG evaluated | a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase | 1995 | 8552044 | |||||||||
332 | OMIA:000202-452646 | American mink | Albinism | TYR | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | c.138T>A | p.(C46*) | 2008 | 18822100 | ||||||||
260 | OMIA:000202-452646 | American mink | Himalayan | TYR | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | c.1835C>G | p.(H420Q) | 2009 | 19308642 | ||||||||
1600 | OMIA:000202-9544 | Rhesus monkey | Coat colour, oculocutaneous albinism | TYR | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | 14 | c.552C>A | p.(S184*) | 2000 | 10751629 | |||||||
355 | OMIA:000202-9515 | Tufted capuchin | Coat colour, albinism | TYR | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | c.64C>T | p.(R22*) | 2017 | 28476152 | ||||||||
1599 | OMIA:000202-9544 | Rhesus monkey | Coat colour, golden | TYR | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | 14 | c.768C>G | p.(H256Q) | 2023 | 37522525 | |||||||
1303 | OMIA:000202-31143 | Japanese ratsnake | Coat colour, oculocutaneous albinism | TYR | albino - pet trade | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | c.895C>T | p.(R299X) | 2018 | 30158334 | |||||||
1601 | OMIA:000202-9544 | Rhesus monkey | Coat colour, oculocutaneous albinism | TYR | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | 14 | c.934C>A | p.(L312I) | 2020 | 32259106 | |||||||
329 | OMIA:000202-89462 | water buffalo | Murrah (Buffalo) | Albinism | TYR | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently ISAG evaluated | UOA_WB_1 | 5 | NC_037549.1:g.82063942C>T | XM_006075179.2:c.1431G>A | XP_006075241.1:p.(W477*) | 2012 | 22817390 | ||||
1118 | OMIA:000202-9627 | red fox | Albinism | TYR | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently ISAG evaluated | VulVul2.2 | NW_020356544.1 | g.7130732dup | c.365dup | p.(N122Kfs4*) | XM_026015193.1; XP_025870978.1; published as c.365dupA | 2019 | 31246286 |
* 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 | 78 |
Variants with genomic location | 18 (23.1% ) |
Variants in a variant database, i.e. with rs ID | 1 (1.3%) |
Variant Type | Count | Percent |
---|---|---|
complex rearrangement | 2 | 2.6% |
deletion, gross (>20) | 9 | 11.5% |
deletion, small (<=20) | 15 | 19.2% |
insertion, gross (>20) | 5 | 6.4% |
insertion, small (<=20) | 3 | 3.8% |
not known | 1 | 1.3% |
reference sequence allele | 2 | 2.6% |
repeat variation | 1 | 1.3% |
substitution | 40 | 51.3% |
Variant Effect | Count | Percent |
---|---|---|
frameshift | 10 | 12.8% |
missense | 24 | 30.8% |
nonsense (stop-gain) | 12 | 15.4% |
regulatory | 1 | 1.3% |
splicing | 7 | 9.0% |
unknown | 24 | 30.8% |
Year First Reported | Count | Percent |
---|---|---|
1990 | 1 | 1.3% |
1991 | 0 | 0.0% |
1992 | 1 | 1.3% |
1993 | 1 | 1.3% |
1994 | 0 | 0.0% |
1995 | 1 | 1.3% |
1996 | 1 | 1.3% |
1997 | 3 | 3.8% |
1998 | 0 | 0.0% |
1999 | 0 | 0.0% |
2000 | 1 | 1.3% |
2001 | 3 | 3.8% |
2002 | 5 | 6.4% |
2003 | 1 | 1.3% |
2004 | 1 | 1.3% |
2005 | 2 | 2.6% |
2006 | 0 | 0.0% |
2007 | 3 | 3.8% |
2008 | 3 | 3.8% |
2009 | 2 | 2.6% |
2010 | 0 | 0.0% |
2011 | 0 | 0.0% |
2012 | 2 | 2.6% |
2013 | 3 | 3.8% |
2014 | 1 | 1.3% |
2015 | 1 | 1.3% |
2016 | 0 | 0.0% |
2017 | 5 | 6.4% |
2018 | 6 | 7.7% |
2019 | 4 | 5.1% |
2020 | 4 | 5.1% |
2021 | 1 | 1.3% |
2022 | 6 | 7.7% |
2023 | 7 | 9.0% |
2024 | 8 | 10.3% |
2025 | 1 | 1.3% |