OMIA 002230-9913 : Hypotrichosis, HEPHL1-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEPHL1||hephaestin like 1||Bos taurus||29||NC_037356.1 (770614..679014)||HEPHL1||Homologene, Ensembl, NCBI gene|
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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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Belted Galloway||Hypotrichosis||HEPHL1||nonsense (stop-gain)||UMD 3.1||29||g.695072A>T||c.1684A>T||p.K562*||2012||Reference not in PubMed; see OMIA 002230-9913 for reference details||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :|
|Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod 51:25-31, 2019. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.|
|2012||Marron, B., Beever, J.E. :|
|A Mutation in Hephaestin-Like 1 (HEPHL1) is Responsible for Hypotrichosis in Belted Galloway Cattle Plant & Animal Genome (PAG) XX :Abstract P0559, 2012.|
- Created by Frank Nicholas on 28 Jan 2020