Variant: rs755221106

present in Gene: CACNA1G present in Chromosome: 17 Position on Chromosome: 50617560 Alleles of this Variant: G/A;T

rs755221106 in CACNA1G gene and SPINOCEREBELLAR ATAXIA 42 PMID 26456284 2015 A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

PMID 26715324 2015 A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.