Variant: rs746549806 

    present in Gene: PMPCA
    present in Chromosome: 9
    Position on Chromosome: 136417083
    Alleles of this Variant: G/A

rs746549806 in PMPCA gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.