Variant: rs587777583 

    present in Gene: VARS2
    present in Chromosome: 6
    Position on Chromosome: 30918886
    Alleles of this Variant: G/A

rs587777583 in VARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.