Q11* (p.Gln11Ter) variant of KCNH2 (hERG)
Q11* (p.Gln11Ter) in KCNH2 (hERG) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- rs794728416
- ClinGen CA008102
- ClinVar RCV000181951
- ClinVar RCV002516851
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 114
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)