K70* (p.Lys70Ter) variant of RAD21 (O60216)
K70* (p.Lys70Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K70* (p.Lys70Ter) variant details
- p.Lys70Ter
- rs1554612093
- ClinGen CA372010797
- ClinVar RCV000677715
- Ensembl rs1554612093
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)