Variant: rs387907061 

    present in Gene: AARS2
    present in Chromosome: 6
    Position on Chromosome: 44311507
    Alleles of this Variant: A/C

rs387907061 in AARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.