Variant: rs1553479216 

    present in Gene: SCN9A;SCN1A-AS1
    present in Chromosome: 2
    Position on Chromosome: 166228902
    Alleles of this Variant: C/T

rs1553479216 in SCN9A;SCN1A-AS1 gene and Overgrowth PMID 9037087 1997 Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons.

PMID 14985375 2004 Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

PMID 17679678 2007 Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

PMID 21118538 2010 Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals.

PMID 15958509 2005 Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

PMID 21698661 2012 Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

PMID 12210380 2002 Small-fiber neuropathy.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

PMID 23895530 2013 Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

PMID 17167479 2006 An SCN9A channelopathy causes congenital inability to experience pain.

PMID 16392115 2006 Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

PMID 23596073 2013 Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.

PMID 16702558 2006 A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.

PMID 17597096 2007 A stop codon mutation in SCN9A causes lack of pain sensation.

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

PMID 19763161 2009 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PMID 15929046 2005 Erythromelalgia: a hereditary pain syndrome enters the molecular era.

PMID 8610490 1995 Idiopathic distal small fiber neuropathy.

PMID 18524793 2008 The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology.

PMID 27504264 2016 Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

PMID 27413160 2016 Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.