rs548072061

This variant is located in the SCN9A gene.

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ClinVar annotation

Conflicting Classifications
1 submitter

Paroxysmal extreme pain disorder; Primary erythromelalgia; Small fiber neuropathy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive

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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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