V1324G (p.Val1324Gly) variant of SCN5A (Nav1.5)
V1324G (p.Val1324Gly) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brugada syndrome. The record also includes published literature and structural context.
V1324G (p.Val1324Gly) variant details
- p.Val1324Gly
- rs2471575135
- ClinGen CA352147637
- ClinVar RCV003991521
- Likely pathogenic
- Brugada syndrome
- Missense
- ClinVar: Likely pathogenic (Brugada syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)