OMIA 002296-9615 : XY DSD (Disorder of Sexual Development), NR6A1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|NR6A1||nuclear receptor subfamily 6, group A, member 1||Canis lupus familiaris||9||NC_051813.1 (59147688..59369600)||NR6A1||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|
|Yorkshire Terrier||XY DSD (Disorder of Sexual Development), NR5A1-related||NR6A1||deletion, gross (>20)||9||"a large deletion consisting of four exons of the NR5A1 gene" (Nowacka-Woszuk et al., 2020)||2020||33128907|
|2020||Nowacka-Woszuk, J., Szczerbal, I., Stachowiak, M., Dzimira, S., Nizanski, W., Biezynski, J., Nowak, T., Gogulski, M., Switonski, M. :|
|Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Anim Reprod Sci 223:106632, 2020. Pubmed reference: 33128907. DOI: 10.1016/j.anireprosci.2020.106632.|
- Created by Frank Nicholas on 02 Nov 2020
- Changed by Frank Nicholas on 02 Nov 2020