Variant: rs121912425 

    present in Gene: ITPR1
    present in Chromosome: 3
    Position on Chromosome: 4683472
    Alleles of this Variant: C/T

rs121912425 in ITPR1 gene and SPINOCEREBELLAR ATAXIA 15 PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.