Variant: rs267607030 

    present in Gene: SCN9A;SCN1A-AS1
    present in Chromosome: 2
    Position on Chromosome: 166311728
    Alleles of this Variant: T/C

rs267607030 in SCN9A;SCN1A-AS1 gene and Primary Erythermalgia PMID 16392115 2006 Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

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

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

PMID 24311784 2014 Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

PMID 15955112 2005 SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

PMID 19369487 2009 Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

PMID 15385606 2004 Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

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 16216943 2005 Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.

PMID 16988069 2006 Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.

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