Variant: rs786200924 

    present in Gene: ACO2
    present in Chromosome: 22
    Position on Chromosome: 41507953
    Alleles of this Variant: C/G

rs786200924 in ACO2 gene and INFANTILE CEREBELLAR-RETINAL DEGENERATION PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

PMID 22405087 2012 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.