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4 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 000185-452646 American mink Chediak-Higashi syndrome LYST deletion, small (<=20) yes c.9468delC 2013 22762706
OMIA 000031-452646 American mink Coat colour, silver-blue MLPH deletion, gross (>20) no deletion of exon 8 2013 23747352
OMIA 000202-452646 American mink Albinism TYR nonsense (stop-gain) yes c.138T>A p.C46* 2008 18822100
OMIA 001497-452646 American mink Coat colour, Himalayan TYR missense no c.1835C>G p.H420Q 2009 19308642
Overall Statistics
Total number of variants 4
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, gross (>20) 1 25.0%
deletion, small (<=20) 1 25.0%
missense 1 25.0%
nonsense (stop-gain) 1 25.0%
Year First Reported Count Percent
2008 1 25.0%
2009 1 25.0%
2010 0 0.0%
2011 0 0.0%
2012 0 0.0%
2013 2 50.0%