Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Glu916Lys (p.E916K)
(
ENST00000369519.4 )
RBM20 p.Glu916Lys (p.E916K) ( ENST00000369519.4 ) - Associated Disease
- Primary dilated cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) AND Primary dilated cardiomyopathy
- ClinVar Allele ID
- 174600
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.2746G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-05-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000156214
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs