present in Gene: CACNA1C
present in Chromosome: 12
Position on Chromosome: 2550020
Alleles of this Variant: G/A
rs121912775 in
CACNA1C gene and
Brugada Syndrome 3
PMID 17224476 2007 Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.