Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Ile536Thr (p.I536T)
(
ENST00000369519.4 )
RBM20 p.Ile536Thr (p.I536T) ( ENST00000369519.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) AND not provided
- ClinVar Allele ID
- 198200
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1607T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-04-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000183853
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs