Annotation Detail

Information
Associated Genes
CACNA1C
Associated Variants
CACNA1C MUTATION
CACNA1C MUTATION
Associated Disease
Brugada Syndrome (disorder)
Source Database
DisGeNET
Description
We report a rare CACNA1C mutation as causing BrS and/or shortened QT interval in a family also carrying a SCN5A stop mutation, but which does not segregate with BrS.
Pubmed
25341504
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
13
Original source reporting the Gene Disease association
BeFree,CLINVAR,LHGDN,ORPHANET
DisGENET score for the Gene Disease association
0.24489588521911
Drugs