Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Arg623Trp (p.R623W)
(
ENST00000369519.4 )
RBM20 p.Arg623Trp (p.R623W) ( ENST00000369519.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) AND not provided
- ClinVar Allele ID
- 198205
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1867C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2020-01-21
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000183858
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs