9 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|
|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|
|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%)|
|deletion, gross (>20)||1||11.1%|
|deletion, small (<=20)||2||22.2%|
|insertion, gross (>20)||1||11.1%|
|Year First Reported||Count||Percent|