Variant: rs587777685 

    present in Gene: PRKDC
    present in Chromosome: 8
    Position on Chromosome: 47820870
    Alleles of this Variant: A/C

rs587777685 in PRKDC gene and IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES PMID 19075392 2009 A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

PMID 23722905 2013 PRKDC mutations in a SCID patient with profound neurological abnormalities.