Variant: rs1431914212 

    present in Gene: NPRL3
    present in Chromosome: 16
    Position on Chromosome: 93327
    Alleles of this Variant: T/A;C

rs1431914212 in NPRL3 gene and EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 PMID 26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

PMID 26285051 2016 Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.