Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Arg634Gln (p.R634Q)
(
ENST00000369519.4 )
RBM20 p.Arg634Gln (p.R634Q) ( ENST00000369519.4 ) - Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) AND Cardiovascular phenotype
- ClinVar Allele ID
- 15308
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1901G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002408443
- Observed Origin Sample
- germline
Drugs