F179C (p.Phe179Cys) variant of SERPINC1 (Antithrombin-III)
F179C (p.Phe179Cys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The record also includes structural context.
F179C (p.Phe179Cys) variant details
- p.Phe179Cys
- TOPMed rs483352847
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (in AT3D)
- Structural context available