Annotation Detail
Information
- Associated Genes
- HCN4
- Associated Variants
-
HCN4 p.Gly482Arg (p.G482R)
(
ENST00000261917.4 )
HCN4 p.Gly482Arg (p.G482R) ( ENST00000261917.4 ) - Associated Disease
- Brugada syndrome 8
- Source Database
- ClinVar
- Description
- NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) AND Brugada syndrome 8
- ClinVar Allele ID
- 194414
- ClinVar RefSeq Alternation Syntax
- NM_005477.3:c.1444G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000647252
- ClinVar Disease
- Brugada syndrome 8
- Observed Origin Sample
- germline
Drugs