C53F (p.Cys53Phe) variant of SERPINC1 (Antithrombin-III)
C53F (p.Cys53Phe) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature and structural context.
C53F (p.Cys53Phe) variant details
- p.Cys53Phe
- UniProt VAR 071199
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. (PMID 23910795)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)