rs41289586

This is a variant in the ANO10 gene that changes a arginine to an histidine.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

ClinVar annotation

Likely Benign★★★
8 submitters10 publications

Autosomal recessive spinocerebellar ataxia 10; not specified

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About ANO10

The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

View all ANO10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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