Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
CACNA1C MUTATION
CACNA1C MUTATION - Associated Disease
- congenital heart defects
- Source Database
- DisGeNET
- Description
- Whole exome sequencing in combination with Ingenuity variant analysis was completed on 3 affected individuals and 1 unaffected individual from a large pedigree with concomitant LQTS, HCM, and congenital heart defects and identified a novel CACNA1C mutation, p.Arg518Cys, as the most likely candidate mutation.
- Pubmed
- 26253506
- Section of the abstract supporting the evidence
- METHODS AND RESULTS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs