Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Arg1182His (p.R1182H)
(
ENST00000369519.4 )
RBM20 p.Arg1182His (p.R1182H) ( ENST00000369519.4 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) AND not specified
- ClinVar Allele ID
- 178608
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.3545G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-05-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000678748
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs