Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Arg636His (p.R636H)
(
ENST00000369519.4 )
RBM20 p.Arg636His (p.R636H) ( ENST00000369519.4 ) - Associated Disease
- Primary familial dilated cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) AND Primary familial dilated cardiomyopathy
- ClinVar Allele ID
- 15310
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1907G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000622325
- ClinVar Disease
- Primary familial dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs