Variant: rs1230622899 

    present in Gene: SCN11A
    present in Chromosome: 3
    Position on Chromosome: 38925462
    Alleles of this Variant: C/T

rs1230622899 in SCN11A gene and EPISODIC PAIN SYNDROME, FAMILIAL, 3 PMID 24776970 2014 Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

PMID 24207120 2013 Gain-of-function mutations in SCN11A cause familial episodic pain.

PMID 27224030 2016 Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

PMID 25791876 2015 The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.