OMIA 002099-9615 : Ichthyosis, ASPRV1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ASPRV1||aspartic peptidase, retroviral-like 1||Canis lupus familiaris||10||NC_006592.3 (68589753..68586405)||ASPRV1||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|
|German Shepherd Dog||Ichthyosis, ASPRV1-related||ASPRV1||missense||CanFam 3.1||c.1052T>C||p.L351P||2017||28249031|
|2017||Bauer, A., Waluk, D.P., Galichet, A., Timm, K., Jagannathan, V., Sayar, B.S., Wiener, D.J., Dietschi, E., Müller, E.J., Roosje, P., Welle, M.M., Leeb, T. :|
|A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet 13:e1006651, 2017. Pubmed reference: 28249031. DOI: 10.1371/journal.pgen.1006651.|
- Created by Frank Nicholas on 04 Mar 2017
- Changed by Frank Nicholas on 04 Mar 2017
- Changed by Tosso Leeb on 09 Mar 2017