rs1024152367
This is a variant in the SCN9A gene that changes a arginine to an glutamine.
▶ClinVar annotation
Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 (GEFSP7); Neuropathy, hereditary sensory and autonomic, type 2A (HSAN2A)
View on ClinVar →About SCN9A
This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
View all SCN9A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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