Q11* (p.Gln11Ter) variant of WRN (Q14191)
Q11* (p.Gln11Ter) in WRN (Q14191) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- rs2130000774
- ClinGen CA370912070
- ClinVar RCV001889051
- Ensembl rs2130000774
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)