OMIA 002196-9615 : Deafness, unilateral and vestibular dysfunction in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PTPRQ||protein tyrosine phosphatase, receptor type, Q||Canis lupus familiaris||15||NC_051819.1 (23131808..23378520)||PTPRQ||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|
|Doberman Pinscher||Deafness, unilateral and vestibular dysfunction||PTPRQ||insertion, small (<=20)||CanFam3.1||15||g.22989894insA||p.Asn2032LysfsTer24||2018||29460419|
|2018||Guevar, J., Olby, N.J., Meurs, K.M., Yost, O., Friedenberg, S.G. :|
|Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene. J Vet Intern Med 32:665-669, 2018. Pubmed reference: 29460419. DOI: 10.1111/jvim.15060.|
- Created by Frank Nicholas on 22 May 2019
- Changed by Frank Nicholas on 22 May 2019