I453T (p.Ile453Thr) variant of SERPINC1 (Antithrombin-III)
I453T (p.Ile453Thr) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The record also includes published literature and structural context.
I453T (p.Ile453Thr) variant details
- p.Ile453Thr
- rs2526542341
- ClinGen CA343772148
- ClinVar RCV003484578
- UniProt VAR 007086
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. (PMID 7994035)
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)