present in Gene: POLR3H;ACO2
present in Chromosome: 22
Position on Chromosome: 41527315
Alleles of this Variant: G/A
rs752034900 in
POLR3H;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.