Variant: rs1026474882 

    present in Gene: PNP
    present in Chromosome: 14
    Position on Chromosome: 20474755
    Alleles of this Variant: G/A;C

rs1026474882 in PNP gene and Purine-nucleoside phosphorylase deficiency PMID 9067751 1997 Mutations in purine nucleoside phosphorylase deficiency.

PMID 24767876 2014 Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.