Q391* (p.Gln391Ter) variant of SMC1A (Q14683)
Q391* (p.Gln391Ter) 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.
Q391* (p.Gln391Ter) variant details
- p.Gln391Ter
- rs2146604602
- ClinGen CA413256701
- ClinVar RCV001788517
- ClinVar RCV004591536
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)