Variant: rs141772938 

    present in Gene: ACO2
    present in Chromosome: 22
    Position on Chromosome: 41507837
    Alleles of this Variant: C/G

rs141772938 in ACO2 gene and OPTIC ATROPHY 9 PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.