Q183* (p.Gln183Ter) variant of SMC1A (Q14683)
Q183* (p.Gln183Ter) 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.
Q183* (p.Gln183Ter) variant details
- p.Gln183Ter
- rs587784421
- ClinGen CA272587
- ClinVar RCV000147570
- Ensembl rs587784421
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)