OMIA 002034-9615 : Cerebellar cortical degeneration, Hungarian Vizsla in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SNX14||sorting nexin 14||Canis lupus familiaris||12||NC_006594.3 (45598868..45526042)||SNX14||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|
|Vizsla||Cerebellar cortical degeneration, Hungarian Vizsla||SNX14||splicing||CanFam3.1||12||g.45530566G>A||c.2653 + 1G > A||2016||27566131|
|2016||Fenn, J., Boursnell, M., Hitti, R.J., Jenkins, C.A., Terry, R.L., Priestnall, S.L., Kenny, P.J., Mellersh, C.S., Forman, O.P. :|
|Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet 17:123, 2016. Pubmed reference: 27566131. DOI: 10.1186/s12863-016-0433-y.|
- Created by Frank Nicholas on 30 Aug 2016
- Changed by Frank Nicholas on 30 Aug 2016
- Changed by Tosso Leeb on 07 Jul 2017