Variant: rs1553920374 

    present in Gene: PPP3CA
    present in Chromosome: 4
    Position on Chromosome: 101032267
    Alleles of this Variant: C/T

rs1553920374 in PPP3CA gene and EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 PMID 28942967 2017 De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

PMID 29432562 2018 Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.