OMIA:001348-9544 : Atrichia with papular lesions in Macaca mulatta
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 209500 (trait) , 602302 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2002
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HR||hair growth associated||Macaca mulatta||8||NC_041761.1 (22302024..22279151)||HR||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.
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||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|331||Atrichia with papular lesions||HR||nonsense (stop-gain)||Naturally occurring variant||MMUL_1||8||g.22046679C>T||c.1831C>T||p.(R611*)||2002||11831740||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2002||Ahmad, W., Ratterree, M.S., Panteleyev, A.A., Aita, V.M., Sundberg, J.P., Christiano, A.M. :|
|Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene Laboratory Animals 36:61-67, 2002. Pubmed reference: 11831740 .|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011