Variant: rs267606956 

    present in Gene: PNKP
    present in Chromosome: 19
    Position on Chromosome: 49862424
    Alleles of this Variant: C/A;T

rs267606956 in PNKP gene and MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY PMID 20118933 2010 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

PMID 27232581 2016 Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.