OMIA 002080-9615 : Epidermolysis bullosa, simplex, PLEC-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PLEC||plectin||Canis lupus familiaris||13||NC_051817.1 (37980292..37924192)||PLEC||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|
|Eurasier||Epidermolysis bullosa, simplex, PLEC||PLEC||nonsense (stop-gain)||CanFam3.1||13||g.37461941G>A||c.3947G>A||p.Trp1316Stop||CanFam3 chr13: g.37461941G>A; XM_539204.6:c.3947G>A; XP_539204.2:p.Trp1316Stop:||2016||27878870||Updated variant coordinates kindly provided by Tosso Leeb on 8 May 2020|
|2016||Mauldin, E.A., Wang, P., Olivry, T., Henthorn, P.S., Casal, M.L. :|
|Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant. Vet Dermatol :, 2016. Pubmed reference: 27878870. DOI: 10.1111/vde.12394.|
- Created by Frank Nicholas on 29 Nov 2016
- Changed by Frank Nicholas on 30 Nov 2016