L183* (p.Leu183Ter) variant of RAD21 (O60216)
L183* (p.Leu183Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
L183* (p.Leu183Ter) variant details
- p.Leu183Ter
- rs2537297841
- ClinGen CA372006745
- ClinVar RCV002466787
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)