E69* (p.Glu69Ter) variant of SERPINC1 (Antithrombin-III)
E69* (p.Glu69Ter) in SERPINC1 (Antithrombin-III) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E69* (p.Glu69Ter) variant details
- p.Glu69Ter
- rs2526595697
- ClinGen CA343778005
- ClinVar RCV003639540
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)