Deep venous thrombosis: genes and variants
Deep venous thrombosis is linked to 2 analyzed proteins (PROC and FGA). 6 DNA variants are known to cause it; 7 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Deep venous thrombosis
PROC: Vitamin K-dependent protein C
After activation, protein C limits coagulation by proteolytically inactivating factors Va and VIIIa with protein S as a cofactor. Heterozygous deficiency increases venous-thrombosis risk, while severe biallelic deficiency can cause neonatal purpura fulminans.
5 disease-causing and 3 uncertain variants in PROC are linked to Deep venous thrombosis.
FGA: Fibrinogen alpha chain
It contributes the alpha chains of fibrinogen, which thrombin converts into fibrin to form the structural mesh of blood clots. Pathogenic variants can cause afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, thrombosis, or certain hereditary amyloidoses.
1 disease-causing and 0 uncertain variants in FGA are linked to Deep venous thrombosis.
Weakly linked (only a few uncertain records): FGB and PLAT.
Known disease-causing variants in Deep venous thrombosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PROC F118L | 118 | EGF-like 1 | Disease-causing (★★) |
| PROC G239R | 239 | Peptidase S1 | Disease-causing (★★) |
| PROC R42H | 42 | Disease-causing (★★) | |
| PROC P321L | 321 | Peptidase S1 | Disease-causing (★★) |
| FGA R573C | 573 | Coiled coil | Disease-causing (★★) |
| PROC R40H | 40 | Disease-causing (★★) |
Same protein, different disease
- Thrombophilia due to protein C deficiency, autosomal dominant is also caused by PROC variants; they fall mostly in different places as the Deep venous thrombosis variants (50 disease-causing).
- Reduced protein C activity is also caused by PROC variants; they fall mostly in different places as the Deep venous thrombosis variants (12 disease-causing).
- Hereditary thrombophilia due to congenital protein C deficiency is also caused by PROC variants; they fall mostly in different places as the Deep venous thrombosis variants (3 disease-causing).
Diseases related to Deep venous thrombosis
- Hypertrophic cardiomyopathy, also linked to FGA
- Noonan syndrome, also linked to FGA
- Thrombophilia due to protein C deficiency, autosomal dominant, also linked to PROC
- Costello syndrome, also linked to FGA
- Familial dysfibrinogenemia, also linked to FGA
- Reduced protein C activity, also linked to PROC
- Afibrinogenemia, also linked to FGA
- Hereditary thrombophilia due to congenital protein C deficiency, also linked to PROC
- Familial visceral amyloidosis, Ostertag type, also linked to FGA
Frequently asked questions
Which genes are linked to Deep venous thrombosis?
In CATVariant, Deep venous thrombosis is linked to 2 analyzed proteins: PROC (Vitamin K-dependent protein C) and FGA (Fibrinogen alpha chain).
How many genetic variants are linked to Deep venous thrombosis?
13 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Deep venous thrombosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center