Annotation Detail
Information
- Associated Genes
- RBM20
- Associated Variants
-
RBM20 p.Ser637Asn (p.S637N)
(
ENST00000369519.4 )
RBM20 p.Ser637Asn (p.S637N) ( ENST00000369519.4 ) - Associated Disease
- dilated cardiomyopathy 1DD
- Source Database
- ClinVar
- Description
- NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) AND Dilated cardiomyopathy 1DD
- ClinVar Allele ID
- 198207
- ClinVar RefSeq Alternation Syntax
- NM_001134363.3:c.1910G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-08-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001852374
- ClinVar Disease
- Dilated cardiomyopathy 1DD
- Observed Origin Sample
- germline
Drugs