S39* (p.Ser39Ter) variant of SMC1A (Q14683)
S39* (p.Ser39Ter) in SMC1A (Q14683) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S39* (p.Ser39Ter) variant details
- p.Ser39Ter
- rs1057518670
- ClinGen CA16043711
- ClinVar RCV000415358
- Ensembl rs1057518670
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)