R65* (p.Arg65Ter) variant of RAD21 (O60216)
R65* (p.Arg65Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
R65* (p.Arg65Ter) variant details
- p.Arg65Ter
- rs1812625715
- ClinGen CA372010882
- NCI-TCGA Cosmic COSV5205
- ClinVar RCV003645955
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)