Variant: rs1555558553 

    present in Gene: CACNA1G
    present in Chromosome: 17
    Position on Chromosome: 50607905
    Alleles of this Variant: A/G

rs1555558553 in CACNA1G gene and SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS PMID 29878067 2018 De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.