rs2468035957

This variant is located in the SCN3A gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication
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About SCN3A

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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