Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Pro638Leu (p.P638L)
(
ENST00000369519.4 )
RBM20 p.Pro638Leu (p.P638L) ( ENST00000369519.4 ) - Associated Disease
- dilated cardiomyopathy 1DD
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) AND Dilated cardiomyopathy 1DD
- ClinVar Allele ID
- 15307
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1913C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-24
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000292
- ClinVar Disease
- Dilated cardiomyopathy 1DD
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 19712804
Drugs