Variant: rs1322796318 

    present in Gene: ITPR1
    present in Chromosome: 3
    Position on Chromosome: 4665285
    Alleles of this Variant: A/G

rs1322796318 in ITPR1 gene and SPINOCEREBELLAR ATAXIA 29 PMID 29925855 2018 De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.