F5 Chromosome 1
Coagulation factor V
Upload your DNA to see your personal genotypes for variants in F5.
What This Gene Does
This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Multicopper oxidase family
Locus Type
gene with protein product
Location
1q24.2
Ensembl
ENSG00000198734
Associated Conditions (22)
Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases
Factor V Hong Kong
Thrombophilia due to activated protein C resistance
Thromboembolism
F5-related disorder
Ischemic stroke
Pregnancy loss
recurrent
susceptibility to
1
Gastric cancer
Primary familial hypertrophic cardiomyopathy
Hemorrhage
Thrombocytopenia
Abnormal bleeding
Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process
+2 more conditions
Key Variants
RS112333778
Conflicting classifications of pathogenicity
Factor V deficiency, Budd-Chiari syndrome, Congenital factor V deficiency
Health Risk
RS113768654
Conflicting classifications of pathogenicity
Congenital factor V deficiency, Inborn genetic diseases, Congenital factor V deficiency
Health Risk
RS116407347
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital factor V deficiency, Inborn genetic diseases
Health Risk
RS118203905
Conflicting classifications of pathogenicity
Factor V Hong Kong, Thrombophilia due to activated protein C resistance, Congenital factor V deficiency
Health Risk
RS118203906
Conflicting classifications of pathogenicity
Thrombophilia due to activated protein C resistance, Congenital factor V deficiency, Thrombophilia due to activated protein C resistance
Health Risk
RS1338927825
Conflicting classifications of pathogenicity
Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance, Factor V deficiency
Health Risk
RS138086769
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital factor V deficiency, Inborn genetic diseases
Health Risk
RS1384690038
Conflicting classifications of pathogenicity
Thromboembolism, Factor V deficiency, Thrombophilia due to activated protein C resistance
Health Risk
RS138877178
Conflicting classifications of pathogenicity
Budd-Chiari syndrome, Factor V deficiency, F5-related disorder
Health Risk
RS139573207
Conflicting classifications of pathogenicity
Budd-Chiari syndrome, Factor V deficiency, Congenital factor V deficiency
Health Risk
RS1403856375
Conflicting classifications of pathogenicity
Factor V deficiency, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome
Health Risk
RS140598745
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital factor V deficiency, Ischemic stroke
Health Risk
Related Biomarkers (1)
Fibrinogen
monitor
strong
Related Supplements (1)
Vitamin E (high dose) discuss with clinician
moderate
Factor V Leiden — high-dose vitamin E has anticoagulant effect
All Variants (163)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781255484 | Health Risk | Pathogenic | Congenital factor V deficiency, Congenital factor V deficiency |
| RS118203907 | Health Risk | Pathogenic/Likely pathogenic | Factor V deficiency, Congenital factor V deficiency, Factor V deficiency |
| RS1271829589 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor V deficiency, Pregnancy loss, recurrent |
| RS1571575520 | Health Risk | Pathogenic/Likely pathogenic | Factor V deficiency, Congenital factor V deficiency, Factor V deficiency |
| RS1571577365 | Health Risk | Pathogenic/Likely pathogenic | Factor V deficiency, Thrombophilia due to activated protein C resistance, Ischemic stroke |
| RS2526378815 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor V deficiency, Congenital factor V deficiency |
| RS750012108 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor V deficiency, Budd-Chiari syndrome, Ischemic stroke |
| RS757953549 | Health Risk | Pathogenic/Likely pathogenic | Factor V deficiency, Congenital factor V deficiency, Factor V deficiency |
| RS760525448 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor V deficiency, Congenital factor V deficiency |
| RS762646464 | Health Risk | Pathogenic/Likely pathogenic | Factor V deficiency, Congenital factor V deficiency, Factor V deficiency |
| RS765982916 | Health Risk | Pathogenic/Likely pathogenic | Factor V deficiency, Congenital factor V deficiency, Factor V deficiency |
| RS767477438 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor V deficiency, Congenital factor V deficiency |
| RS986891825 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor V deficiency, Budd-Chiari syndrome, Ischemic stroke |