thrombophilia due to thrombin defect
MONDO:0008559Mondo
Findings
No curated finding names thrombophilia due to thrombin defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The formation of a blood clot (thrombus) in the lumen of a vein.
Definition from the Mondo Disease Ontology (MONDO:0008559), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- F2HGNC:3535
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: thrombophilia due to thrombin defect
- Also called
- prothrombin thrombophiliaprothrombin-related thrombophiliathrombophilia 1 due to thrombin defectvenous thromboembolism, susceptibility tovenous thrombosis, protection against