Annotation Detail
Information
- Associated Genes
- HCN4
- Associated Variants
-
HCN4 p.Asp553Asn (p.D553N)
(
ENST00000261917.4 )
HCN4 p.Asp553Asn (p.D553N) ( ENST00000261917.4 ) - Associated Disease
- Sick sinus syndrome 2, autosomal dominant
- Source Database
- ClinVar
- Description
- NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) AND Sick sinus syndrome 2, autosomal dominant
- ClinVar Allele ID
- 20214
- ClinVar RefSeq Alternation Syntax
- NM_005477.3:c.1657G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-05-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005483
- ClinVar Disease
- Sick sinus syndrome 2, autosomal dominant
- Observed Origin Sample
- germline
- Pubmed
- 15123648
Drugs