OMIA 002081-9615 : Epidermolysis bullosa, simplex, KRT5-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT5||keratin 5, type II||Canis lupus familiaris||27||NC_051831.1 (2565565..2571930)||KRT5||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|
|1480||Cardigan Welsh Corgi||Epidermolysis bullosa, simplex, KRT5-related||KRT5||missense||Naturally occurring variant||UU_Cfam_GSD_1.0||27||g.44080887C>T||c.1426G>A||p.(E476K)||NM_001346035.1; NP_001332964.1||2022||36004757|
|2022||Kiener, S., Mauldin, E.A., Jagannathan, V., Casal, M.L., Leeb, T. :|
|KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex. Anim Genet :, 2022. Pubmed reference: 36004757. DOI: 10.1111/age.13257.|
- Created by Frank Nicholas on 27 Aug 2022
- Changed by Frank Nicholas on 27 Aug 2022
- Changed by Imke Tammen2 on 08 Sep 2022