Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Arg634Gln (p.R634Q)
(
ENST00000369519.4 )
RBM20 p.Arg634Gln (p.R634Q) ( ENST00000369519.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) AND not provided
- ClinVar Allele ID
- 15308
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1901G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000183859
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs