Variant: rs146571352 

    present in Gene: PNPT1
    present in Chromosome: 2
    Position on Chromosome: 55647424
    Alleles of this Variant: C/T

rs146571352 in PNPT1 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.