OMIA 002279-9615 : Ataxia, spinocerebellar, SLC12A6-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC12A6||solute carrier family 12 (potassium/chloride transporter), member 6||Canis lupus familiaris||30||NC_051834.1 (868821..957072)||SLC12A6||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|
|Malinois||Ataxia, spinocerebellar, SLC12A6-related||SLC12A6||delins, small (<=20)||CanFam3.1||30||c.178_181delinsCATCTCACTCAT||p.(Met60Hisfs*14)||"The INDEL involves a 12-bp insertion (CATCTCACTCAT) and a 4-bp deletion (ATGA), most probably generated by a template-switch process with an inverted repeat and an inverted spacer (Fig. 2). The variant is located in exon 1a and causes a frameshift at codon 60, leading to a premature stopcodon 14 codons downstream in all transcripts containing exon 1a (Fig. 2). The SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) variant was deposited in the EVA database (URL: https://www.ebi.ac.uk/eva/; Project: PRJEB30850; Analyses: ERZ802317)" (Van Poucke et al., 2019)||2019||31160700|
|2019||Van Poucke, M., Stee, K., Sonck, L., Stock, E., Bosseler, L., Van Dorpe, J., Van Nieuwerburgh, F., Deforce, D., Peelman, L.J., Van Ham, L., Bhatti, S.F.M., Broeckx, B.J.G. :|
|Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet 27:1561-1568, 2019. Pubmed reference: 31160700. DOI: 10.1038/s41431-019-0432-3.|
- Created by Frank Nicholas on 18 Jun 2020
- Changed by Frank Nicholas on 18 Jun 2020