T74C (p.Thr74Cys) variant of KCNH2 (hERG)
T74C (p.Thr74Cys) in KCNH2 (hERG) is a missense 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.
T74C (p.Thr74Cys) variant details
- p.Thr74Cys
- rs2117062748
- ClinGen CA2573141816
- ClinVar RCV001956514
- ClinVar RCV005585030
- Pathogenic
- in LQT2
- Missense
- 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)