Search Results

Advanced search

8 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
149 OMIA000201-9793 ass No light points ASIP NLP missense Naturally occurring variant no c.349T>C p.(C117R) 2015 25887951
347 OMIA000439-9793 ass Hair, long FGF5 nonsense (stop-gain) Naturally occurring variant no c.245G>A 2014 25927731
560 OMIA000439-9793 ass Hair, long FGF5 deletion, small (<=20) Naturally occurring variant no c.433_434delAT 2014 25927731
405 OMIA001737-9793 ass Coat colour, white spotting, due to KIT KIT Ws splicing Naturally occurring variant no c.1978+2T>A 2015 25818843
150 OMIA000209-9793 ass Coat colour, dominant white KIT W missense Naturally occurring variant no c.662A>C p.(Y221S) 2015 25818843
996 OMIA001199-9793 ass Miniature Donkey Normand Red coat colour MC1R e missense Naturally occurring variant no c.629T>C p.(M210T) 2014 25155046
1277 OMIA001972-9793 ass Non-dun TBX3 deletion, small (<=20) Naturally occurring variant no 8 g.42742557delT "This 1 bp deletion (chr8:g.42742556 CT>C−) is located ~18.6 kb downstream of the transcription start site of the TBX3 gene." (Wang et al., 2020) 2020 33293529
151 OMIA000202-9793 ass Coat colour, albinism TYR missense Naturally occurring variant yes c.604C>G p.(H202D) 2016 26763160
Overall Statistics
Total number of variants 8
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) 2 25.0%
missense 4 50.0%
nonsense (stop-gain) 1 12.5%
splicing 1 12.5%
Year First Reported Count Percent
2014 3 37.5%
2015 3 37.5%
2016 1 12.5%
2017 0 0.0%
2018 0 0.0%
2019 0 0.0%
2020 1 12.5%