rs114546413
This variant is located in the CACNB2 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout CACNB2
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
View all CACNB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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