Annotation Detail

Information
Associated Genes
HCN4
Associated Variants
HCN4 p.Gly973Arg (p.G973R) ( ENST00000261917.4 )
HCN4 p.Gly973Arg (p.G973R) ( ENST00000261917.4 )
Source Database
ClinVar
Description
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND Cardiovascular phenotype
ClinVar Allele ID
573513
ClinVar RefSeq Alternation Syntax
NM_005477.3:c.2917G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-04-03
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002440448
Observed Origin Sample
germline
Drugs