Variant: rs121908913 

    present in Gene: SCN9A;SCN1A-AS1
    present in Chromosome: 2
    Position on Chromosome: 166228969
    Alleles of this Variant: C/A

rs121908913 in SCN9A;SCN1A-AS1 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.

PMID 18599537 2008 Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.

PMID 21115638 2011 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

rs121908913 in SCN9A;SCN1A-AS1 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.

PMID 21115638 2011 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

PMID 18599537 2008 Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.

rs121908913 in SCN9A;SCN1A-AS1 gene and PAROXYSMAL EXTREME PAIN DISORDER PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

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.