Annotation Detail
Information
- Associated Genes
- HCN4
- Associated Variants
-
HCN4 p.Gly973Arg (p.G973R)
(
ENST00000261917.4 )
HCN4 p.Gly973Arg (p.G973R) ( ENST00000261917.4 ) - Associated Disease
- Brugada syndrome 8
- Source Database
- ClinVar
- Description
- NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND Brugada syndrome 8
- ClinVar Allele ID
- 573513
- ClinVar RefSeq Alternation Syntax
- NM_005477.3:c.2917G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000691006
- ClinVar Disease
- Brugada syndrome 8
- Observed Origin Sample
- germline
Drugs