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