Factor XII deficiency disease: genes and variants
Factor XII deficiency disease is linked to 1 analyzed protein (F12). 3 DNA variants are known to cause it; 10 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 Factor XII deficiency disease
F12: Coagulation factor XII
It initiates contact-system activation when blood encounters negatively charged surfaces and contributes to intrinsic coagulation and kallikrein-kinin signaling. Severe deficiency markedly prolongs laboratory clotting tests but usually does not cause bleeding.
3 disease-causing and 10 uncertain variants in F12 are linked to Factor XII deficiency disease.
Known disease-causing variants in Factor XII deficiency disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| F12 T328K | 328 | Disease-causing (★★★★) | |
| F12 T328R | 328 | Disease-causing (★) | |
| F12 E521K | 521 | Peptidase S1 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Factor XII deficiency disease?
In CATVariant, Factor XII deficiency disease is linked to 1 analyzed protein: F12 (Coagulation factor XII).
How many genetic variants are linked to Factor XII deficiency disease?
16 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Factor XII deficiency disease 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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