Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Glu1223Gln (p.E1223Q)
(
ENST00000369519.4 )
RBM20 p.Glu1223Gln (p.E1223Q) ( ENST00000369519.4 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) AND not specified
- ClinVar Allele ID
- 53184
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.3667G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-05-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000036991
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs