Q156* (p.Gln156Ter) variant of RAD21 (O60216)
Q156* (p.Gln156Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
Q156* (p.Gln156Ter) variant details
- p.Gln156Ter
- rs1812515682
- ClinGen CA372007805
- ClinVar RCV001052591
- Ensembl rs1812515682
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)