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9 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.

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
518 OMIA000185-452646 American mink Chediak-Higashi syndrome LYST deletion, small (<=20) Naturally occurring variant yes c.9468delC 2013 22762706
1205 OMIA001680-452646 American mink Hedlund MITF h splicing Naturally occurring variant yes 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
672 OMIA000031-452646 American mink Coat colour, silver-blue MLPH deletion, gross (>20) Naturally occurring variant no deletion of exon 8 2013 23747352
1204 OMIA000031-452646 American mink Silverblue MLPH p splicing Naturally occurring variant no MusPutFur1.0.86 g.662639G>A c.901+1G>A GL896909.1:662639 G/A (MLPH C.901 + 1 G > A) (Manakhov et al., 2019) 2019 30872653
1256 OMIA002292-452646 American mink Moyle coat colour RAB38 deletion, small (<=20) Naturally occurring variant no NNQGG.v01 1 g.16075438_16075453del c.574-589del "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
1257 OMIA002292-452646 American mink Moyle coat colour RAB38 duplication Naturally occurring variant no NNQGG.v01 1 g.16132224_16132225dupCT c.20-21dup "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
332 OMIA000202-452646 American mink Albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.138T>A p.(C46*) 2008 18822100
260 OMIA000202-452646 American mink Himalayan TYR missense Naturally occurring variant no c.1835C>G p.(H420Q) 2009 19308642
1255 OMIA001249-452646 American mink American Palomino coat colour TYRP1 b^p insertion, gross (>20) Naturally occurring variant no "a large insertion of approximately eight kb. The insertion most likely disrupts different elements necessary for the splicing of intron 2 of the TYRP1 gene" (Cicera et al., 2016) 2016 26886941
Overall Statistics
Total number of variants 9
Variants with genomic location 4 (44.4% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, gross (>20) 1 11.1%
deletion, small (<=20) 2 22.2%
duplication 1 11.1%
insertion, gross (>20) 1 11.1%
missense 1 11.1%
nonsense (stop-gain) 1 11.1%
splicing 2 22.2%
Year First Reported Count Percent
2008 1 11.1%
2009 1 11.1%
2010 0 0.0%
2011 0 0.0%
2012 0 0.0%
2013 2 22.2%
2014 0 0.0%
2015 0 0.0%
2016 1 11.1%
2017 0 0.0%
2018 0 0.0%
2019 2 22.2%
2020 2 22.2%