OMIA 002092-9615 : Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SPTBN2||spectrin, beta, non-erythrocytic 2||Canis lupus familiaris||18||NC_006600.3 (50631053..50670428)||SPTBN2||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|
|Beagle||Ataxia, spinocerebellar, SPTBN2-related||SPTBN2||deletion, small (<=20)||p.G1952insRDRGQGRPLLLMHRHGAGAA||2012||22781464|
|2012||Forman, O.P., De Risio, L., Stewart, J., Mellersh, C.S., Beltran, E. :|
|Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed reference: 22781464. DOI: 10.1186/1471-2156-13-55.|
- Created by Tosso Leeb on 19 Jan 2017
- Changed by Tosso Leeb on 02 Mar 2017
- Changed by Tosso Leeb on 07 Jul 2017