Annotation Detail
Information
- Associated Genes
- HCN4
- Associated Variants
-
HCN4 p.Gly480Arg (p.G480R)
(
ENST00000261917.4 )
HCN4 p.Gly480Arg (p.G480R) ( ENST00000261917.4 ) - Associated Disease
- Sick sinus syndrome 2, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg) AND Sick sinus syndrome 2, autosomal dominant
- ClinVar Allele ID
- 20215
- ClinVar RefSeq Alternation Syntax
- NM_005477.3:c.1438G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-07-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005484
- ClinVar Disease
- Sick sinus syndrome 2, autosomal dominant
- Observed Origin Sample
- germline
- Pubmed
- 17646576
Drugs