Variant: rs546968533 

    present in Gene: ATP8A2
    present in Chromosome: 13
    Position on Chromosome: 25553863
    Alleles of this Variant: C/G;T

rs546968533 in ATP8A2 gene and CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.