Annotation Detail

Information
Associated Genes
RBM20
Associated Variants
RBM20 p.Ser637Asn (p.S637N) ( ENST00000369519.4 )
RBM20 p.Ser637Asn (p.S637N) ( ENST00000369519.4 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) AND not provided
ClinVar Allele ID
198207
ClinVar RefSeq Alternation Syntax
NM_001134363.3:c.1910G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2020-06-04
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000183863
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs