C49* (p.Cys49Ter) variant of KCNH2 (hERG)
C49* (p.Cys49Ter) in KCNH2 (hERG) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT2. The record also includes experimental measurements, published literature, and structural context.
C49* (p.Cys49Ter) variant details
- p.Cys49Ter
- rs1584883377
- ClinGen CA915945559
- ClinVar RCV000821345
- ClinVar RCV002390696
- Pathogenic
- in LQT2
- Stop Gained
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- 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)