Variant: rs1057518702 

    present in Gene: PDHA1
    present in Chromosome: X
    Position on Chromosome: 19351258
    Alleles of this Variant: A/G

rs1057518702 in PDHA1 gene and Pyruvate Dehydrogenase E1 Alpha Deficiency PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.