Hereditary factor X deficiency disease: genes and variants
Hereditary factor X deficiency disease is linked to 1 analyzed protein (F10). 15 DNA variants are known to cause it; 23 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary factor X deficiency disease
F10: Coagulation factor X
After activation to factor Xa, it converts prothrombin to thrombin within the prothrombinase complex and therefore occupies a central position in the coagulation cascade. Biallelic deficiency causes a rare bleeding disorder, while factor Xa is a major target of direct oral anticoagulants.
15 disease-causing and 23 uncertain variants in F10 are linked to Hereditary factor X deficiency disease.
Where Hereditary factor X deficiency disease variants cluster
- F10 Gla (positions 41–85): 3 of 15 disease-causing changes, 2.2× more than its size predicts.
Known disease-causing variants in Hereditary factor X deficiency disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| F10 G406R | 406 | Peptidase S1 | Disease-causing (★★) |
| F10 G363S | 363 | Peptidase S1 | Disease-causing (★★) |
| F10 G450R | 450 | Peptidase S1 | Disease-causing (★★) |
| F10 G406S | 406 | Peptidase S1 | Disease-causing (★) |
| F10 F71S | 71 | Gla | Disease-causing (★) |
| F10 C404R | 404 | Peptidase S1 | Disease-causing (★) |
| F10 E54G | 54 | Gla | Disease-causing (★) |
| F10 D86N | 86 | EGF-like 1 | Disease-causing (★) |
| F10 L272P | 272 | Peptidase S1 | Disease-causing (★) |
| F10 D418H | 418 | Peptidase S1 | Disease-causing (★) |
| F10 A444V | 444 | Peptidase S1 | Disease-causing (★) |
| F10 R40T | 40 | Disease-causing (★) | |
| F10 E56G | 56 | Gla | Disease-causing (★) |
| F10 R346C | 346 | Peptidase S1 | Disease-causing (★) |
| F10 T358M | 358 | Peptidase S1 | Disease-causing (★) |
Uncertain variants in Hereditary factor X deficiency disease that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| F10 E54K | 54 | Gla | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; E54G at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.763 |
Same protein, different disease
- Factor X deficiency is also caused by F10 variants; they fall mostly in different places as the Hereditary factor X deficiency disease variants (10 disease-causing).
Diseases related to Hereditary factor X deficiency disease
- Factor X deficiency, also linked to F10
- Ischemic stroke, also linked to F10
Frequently asked questions
Which genes are linked to Hereditary factor X deficiency disease?
In CATVariant, Hereditary factor X deficiency disease is linked to 1 analyzed protein: F10 (Coagulation factor X).
How many genetic variants are linked to Hereditary factor X deficiency disease?
41 variants: 15 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 23 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary factor X deficiency disease look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example F10 E54K. These are leads for expert review, not diagnoses.
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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