W81* (p.Trp81Ter) variant of SERPINC1 (Antithrombin-III)
W81* (p.Trp81Ter) 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.
W81* (p.Trp81Ter) variant details
- p.Trp81Ter
- rs2526595268
- ClinGen CA343777815
- ClinVar RCV002572012
- 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)