OMIA 002119-9615 : Polyneuropathy, GJA9-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GJA9||gap junction protein, alpha 9, 59kDa||Canis lupus familiaris||15||NC_006597.3 (3862418..3864296)||GJA9||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|
|Leonberger||Polyneuropathy (LPN2)||GJA9||deletion, small (<=20)||CanFam3.1||15||g.3863524_3863525delAG||c.1107_1108delAG||p.Glu370AsnfsTer12||2017||28841859|
|2017||Becker, D., Minor, K.M., Letko, A., Ekenstedt, K.J., Jagannathan, V., Leeb, T., Shelton, G.D., Mickelson, J.R., Drögemüller, C. :|
|A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics 18:662, 2017. Pubmed reference: 28841859. DOI: 10.1186/s12864-017-4081-z.|
- Created by Frank Nicholas on 28 Aug 2017
- Changed by Frank Nicholas on 01 Sep 2017