R171* (p.Arg171Ter) variant of SMC1A (Q14683)
R171* (p.Arg171Ter) 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.
R171* (p.Arg171Ter) variant details
- p.Arg171Ter
- rs2520963220
- ClinGen CA413259367
- ClinVar RCV002470576
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)