Q210* (p.Gln210Ter) variant of SMC1A (Q14683)
Q210* (p.Gln210Ter) 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.
Q210* (p.Gln210Ter) variant details
- p.Gln210Ter
- rs2146605443
- ClinGen CA413258994
- ClinVar RCV001915104
- Ensembl rs2146605443
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)