rs769249583
This variant is located in the CHRNB2 gene.
▶ClinVar annotation
not provided; Autosomal dominant nocturnal frontal lobe epilepsy 3; Autosomal dominant nocturnal frontal lobe epilepsy
View on ClinVar →About CHRNB2
Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
View all CHRNB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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