Variant: rs587782933 

    present in Gene: CACNA1C
    present in Chromosome: 12
    Position on Chromosome: 2504526
    Alleles of this Variant: G/A

rs587782933 in CACNA1C gene and Long QT Syndrome PMID 26822303 2016 Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.

PMID 25691416 2015 Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.

PMID 24773605 2014 Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).

PMID 23979604 2014 A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.

PMID 21685391 2011 Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein.

PMID 15863612 2005 Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.