Variant: rs879255596 

    present in Gene: NEDD4L
    present in Chromosome: 18
    Position on Chromosome: 58390680
    Alleles of this Variant: G/A

rs879255596 in NEDD4L gene and PERIVENTRICULAR NODULAR HETEROTOPIA 7 PMID 27694961 2016 Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.