C127* (p.Cys127Ter) variant of SERPINC1 (Antithrombin-III)
C127* (p.Cys127Ter) in SERPINC1 (Antithrombin-III) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AT3D. The record also includes published literature and structural context.
C127* (p.Cys127Ter) variant details
- p.Cys127Ter
- rs2102789590
- ClinGen CA343777287
- ClinVar RCV001984533
- Ensembl rs2102789590
- Pathogenic
- in AT3D
- Stop Gained
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (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)