Variant: rs587777788 

    present in Gene: ATP5F1A
    present in Chromosome: 18
    Position on Chromosome: 46087222
    Alleles of this Variant: T/A;C

rs587777788 in ATP5F1A gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 PMID 23596069 2013 Targeted exome sequencing of suspected mitochondrial disorders.