Hereditary thrombophilia due to congenital protein C deficiency: genes and variants
Hereditary thrombophilia due to congenital protein C deficiency is linked to 2 analyzed proteins (PROC and F2). 3 DNA variants are known to cause it; 0 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 Hereditary thrombophilia due to congenital protein C deficiency
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.
3 disease-causing and 0 uncertain variants in PROC are linked to Hereditary thrombophilia due to congenital protein C deficiency.
F2: Prothrombin
After cleavage to thrombin, it converts fibrinogen to fibrin and activates multiple additional coagulation components to amplify clot formation. Deficiency can cause bleeding, whereas the common G20210A variant raises prothrombin levels and increases venous-thrombosis risk.
0 disease-causing and 0 uncertain variants in F2 are linked to Hereditary thrombophilia due to congenital protein C deficiency.
Known disease-causing variants in Hereditary thrombophilia due to congenital protein C deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PROC A301T | 301 | Peptidase S1 | Disease-causing (★★) |
| PROC P210L | 210 | Disease-causing (★★) | |
| PROC A309T | 309 | Peptidase S1 | 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 Hereditary thrombophilia due to congenital protein C deficiency variants (50 disease-causing).
- Reduced protein C activity is also caused by PROC variants; they fall mostly in different places as the Hereditary thrombophilia due to congenital protein C deficiency variants (12 disease-causing).
- Deep venous thrombosis is also caused by PROC variants; they fall mostly in different places as the Hereditary thrombophilia due to congenital protein C deficiency variants (5 disease-causing).
Diseases related to Hereditary thrombophilia due to congenital protein C deficiency
- Thrombophilia due to protein C deficiency, autosomal dominant, also linked to PROC
- Prothrombin deficiency, also linked to F2
- Reduced protein C activity, also linked to PROC
- Thrombophilia due to thrombin defect, also linked to F2
- Deep venous thrombosis, also linked to PROC
- Ischemic stroke, also linked to F2
- Pregnancy loss, recurrent, susceptibility to, 1, also linked to F2
Frequently asked questions
Which genes are linked to Hereditary thrombophilia due to congenital protein C deficiency?
In CATVariant, Hereditary thrombophilia due to congenital protein C deficiency is linked to 2 analyzed proteins: PROC (Vitamin K-dependent protein C) and F2 (Prothrombin).
How many genetic variants are linked to Hereditary thrombophilia due to congenital protein C deficiency?
46 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary thrombophilia due to congenital protein C deficiency 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.
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