W23* (p.Trp23Ter) variant of RAD21 (O60216)
W23* (p.Trp23Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- rs1804043
- ClinGen CA184279587
- ClinVar RCV003988796
- Ensembl rs1804043
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)