Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Gln386Ter (p.Q386*)
(
ENST00000369519.4 )
RBM20 p.Gln386Ter (p.Q386*) ( ENST00000369519.4 ) - Associated Disease
- dilated cardiomyopathy 1DD
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) AND Dilated cardiomyopathy 1DD
- ClinVar Allele ID
- 198195
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1156C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-09-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000818287
- ClinVar Disease
- Dilated cardiomyopathy 1DD
- Observed Origin Sample
- germline
Drugs