T88I (p.Thr88Ile) variant of SCN10A (Q9Y5Y9)
T88I (p.Thr88Ile) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome; not provided. The record also includes published literature and structural context.
T88I (p.Thr88Ile) variant details
- p.Thr88Ile
- rs1226072923
- ClinGen CA352162460
- ClinVar RCV000638739
- ClinVar RCV004768492
- Uncertain significance
- Brugada syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Brugada syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)