Q12* (p.Gln12Ter) variant of WRN (Q14191)
Q12* (p.Gln12Ter) in WRN (Q14191) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- rs2130000832
- ClinVar RCV004573860
- Ensembl rs2130000832
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)