Variant: rs1555890974 

    present in Gene: ACO2;POLR3H
    present in Chromosome: 22
    Position on Chromosome: 41527919
    Alleles of this Variant: AG/-

rs1555890974 in ACO2;POLR3H gene and Movement Disorders PMID 22405087 2012 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

PMID 26992325 2016 Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.

PMID 28545339 2017 Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

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