Variant: rs869025292 

    present in Gene: ENTR1;PMPCA
    present in Chromosome: 9
    Position on Chromosome: 136412502
    Alleles of this Variant: C/T

rs869025292 in ENTR1;PMPCA gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 PMID 26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

PMID 25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.