rs1457933535
This variant is located in the CACNA2D1 gene.
▶ClinVar annotation
Brugada syndrome; Cardiovascular phenotype
View on ClinVar →About CACNA2D1
The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
View all CACNA2D1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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