Variant: rs121908910 

    present in Gene: SCN1A-AS1;SCN9A
    present in Chromosome: 2
    Position on Chromosome: 166272731
    Alleles of this Variant: G/A;C

rs121908910 in SCN1A-AS1;SCN9A gene and Generalized Epilepsy With Febrile Seizures Plus, 7 PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

rs121908910 in SCN1A-AS1;SCN9A gene and Neuropathy, Hereditary Sensory And Autonomic, Type IIA PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

rs121908910 in SCN1A-AS1;SCN9A gene and PAROXYSMAL EXTREME PAIN DISORDER PMID 25285947 2015 p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.

PMID 18945915 2008 NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.