rs770359368
This variant is located in the CHRNB1 gene.
▶ClinVar annotation
Congenital myasthenic syndrome 2A; Congenital myasthenic syndrome 4C
View on ClinVar →About CHRNB1
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
View all CHRNB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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