F90C (p.Phe90Cys) variant of SERPINC1 (Antithrombin-III)
F90C (p.Phe90Cys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency. The record also includes published literature and structural context.
F90C (p.Phe90Cys) variant details
- p.Phe90Cys
- rs2526594931
- ClinGen CA343777713
- ClinVar RCV003112098
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (in AT3D)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)