rs74120235

This variant is located in the CACNB2 gene.

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ClinVar annotation

Benign★★★☆
8 submitters2 publications

not specified; Short QT Syndrome 5; not provided; Colorectal cancer; Uterine corpus endometrial carcinoma; Sarcoma; Thymoma; Cholangiocarcinoma

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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