Variant: rs397514619 

    present in Gene: ATP2B3
    present in Chromosome: X
    Position on Chromosome: 153565081
    Alleles of this Variant: G/A

rs397514619 in ATP2B3 gene and SPINOCEREBELLAR ATAXIA, X-LINKED 1 PMID 22912398 2012 Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.