F10 Chromosome 13
Coagulation factor X
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What This Gene Does
This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000126218
Associated Conditions (8)
Factor X deficiency
Hereditary factor X deficiency disease
Abnormal bleeding
Thrombocytopenia
Inborn genetic diseases
F10-related disorder
Factor x deficiency
autosomal dominant
Key Variants
RS121964939
Conflicting classifications of pathogenicity
Factor X deficiency, Hereditary factor X deficiency disease, Factor X deficiency
Health Risk
RS1233330150
Conflicting classifications of pathogenicity
Abnormal bleeding, Thrombocytopenia, Factor X deficiency
Health Risk
RS144679674
Conflicting classifications of pathogenicity
Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
Health Risk
RS201731360
Conflicting classifications of pathogenicity
Hereditary factor X deficiency disease, Inborn genetic diseases, Hereditary factor X deficiency disease
Health Risk
RS368225671
Conflicting classifications of pathogenicity
Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
Health Risk
RS369872236
Conflicting classifications of pathogenicity
Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
Health Risk
RS370154986
Conflicting classifications of pathogenicity
Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
Health Risk
RS41286610
Conflicting classifications of pathogenicity
Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
Health Risk
RS61753266
Conflicting classifications of pathogenicity
Factor X deficiency, Abnormal bleeding, Hereditary factor X deficiency disease
Health Risk
RS121964944
Likely pathogenic
Hereditary factor X deficiency disease, Factor X deficiency, F10-related disorder
Health Risk
RS1325135019
Likely pathogenic
Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
Health Risk
RS1595098100
Likely pathogenic
Abnormal bleeding, Abnormal bleeding
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121964939 | Health Risk | Conflicting classifications of pathogenicity | Factor X deficiency, Hereditary factor X deficiency disease, Factor X deficiency |
| RS1233330150 | Health Risk | Conflicting classifications of pathogenicity | Abnormal bleeding, Thrombocytopenia, Factor X deficiency |
| RS144679674 | Health Risk | Conflicting classifications of pathogenicity | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS201731360 | Health Risk | Conflicting classifications of pathogenicity | Hereditary factor X deficiency disease, Inborn genetic diseases, Hereditary factor X deficiency disease |
| RS368225671 | Health Risk | Conflicting classifications of pathogenicity | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS369872236 | Health Risk | Conflicting classifications of pathogenicity | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS370154986 | Health Risk | Conflicting classifications of pathogenicity | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS41286610 | Health Risk | Conflicting classifications of pathogenicity | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS61753266 | Health Risk | Conflicting classifications of pathogenicity | Factor X deficiency, Abnormal bleeding, Hereditary factor X deficiency disease |
| RS121964944 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Factor X deficiency, F10-related disorder |
| RS1325135019 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS1595098100 | Health Risk | Likely pathogenic | Abnormal bleeding, Abnormal bleeding |
| RS1595099527 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS1595099645 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS1595099844 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2036592550 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2138557799 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2503081410 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2503081595 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2503094311 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2503094343 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2503095549 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2503095616 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2503095628 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS755110383 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS759544193 | Health Risk | Likely pathogenic | — |
| RS765649682 | Health Risk | Likely pathogenic | — |
| RS768222784 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Factor X deficiency, F10-related disorder |
| RS773214680 | Health Risk | Likely pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS104894392 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS121964940 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS121964941 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS121964942 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS121964943 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS121964945 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS121964946 | Health Risk | Pathogenic | Factor x deficiency, autosomal dominant, Factor x deficiency |
| RS121964947 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS121964948 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS1250509122 | Health Risk | Pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS2138548669 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS376163818 | Health Risk | Pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS387906506 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |
| RS749213415 | Health Risk | Pathogenic | Hereditary factor X deficiency disease, Hereditary factor X deficiency disease |
| RS753790195 | Health Risk | Pathogenic | Factor X deficiency, Factor X deficiency |