Search Results

Advanced search

7 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 required column headers

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 000201-9793 ass No light points ASIP NLP missense no c.349T>C p.C117R 2015 25887951
OMIA 000439-9793 ass Hair, long FGF5 nonsense (stop-gain) no c.245G > A 2014 25927731
OMIA 000439-9793 ass Hair, long FGF5 deletion, small (<=20) no c.433_434delAT 2014 25927731
OMIA 001737-9793 ass Coat colour, white spotting, due to KIT KIT splicing no c.1978+2T>A 2015 25818843
OMIA 000209-9793 ass Coat colour, dominant white KIT missense no c.662A>C p.Y221S 2015 25818843
OMIA 001199-9793 ass miniature donkey Normand Red coat colour MC1R e missense no c.629T>C p.M210T 2014 25155046
OMIA 000202-9793 ass Coat colour, albinism TYR missense yes c.604C>G p.H202D 2016 26763160
Overall Statistics
Total number of variants 7
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, small (<=20) 1 14.3%
missense 4 57.1%
nonsense (stop-gain) 1 14.3%
splicing 1 14.3%
Year First Reported Count Percent
2014 3 42.9%
2015 3 42.9%
2016 1 14.3%