Gene:
F5
coagulation factor V (proaccelerin, labile factor)

last updated 08/10/2011

Dutch Pharmacogenetics Working Group Guideline for hormonal contraceptives for systemic use and F5

Summary

In individuals who carry the Factor V Leiden allele and have a family history of thrombotic events, estrogen-containing oral contraceptives should be avoided and alternative forms of contraception used.

Annotation

The Royal Dutch Pharmacists Association - Pharmacogenetics Working Group has evaluated therapeutic dose recommendations for hormonal contraceptives for systemic use based on Factor V Leiden (FVL, or F5) genotype (PMID:21412232). They suggest that in individuals who carry the Factor V Leiden allele and have a family history of thrombotic events, estrogen-containing oral contraceptives should be avoided and alternative forms of contraception used.

Phenotype (Genotype) Therapeutic Dose Recommendation Level of Evidence Clinical Relevance
F5 homozygous rs6025 TT Positive (family) history of thrombotic events: avoid estrogen-containing oral contraceptives and select alternative (e.g., copper intrauterine device, progestin-only contraceptive). Negative (family) history of thrombotic events: avoid additional risk factors (e.g., obesity, smoking). Published controlled studies of moderate quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints. Clinical effect (S): long-standing discomfort (> 168 hr), permanent symptom or invalidating injury e.g. failure of prophylaxis of atrial fibrillation; venous thromboembolism; decreased effect of clopidogrel on inhibition of platelet aggregation; ADE resulting from increased bioavailability of phenytoin; INR > 6.0; neutropenia 0.5-1.0x10 9/l; leucopenia 1.0-2.0x10 9/l; thrombocytopenia 25-50x10 9/l; severe diarrhea
F5 heterozygous rs6025 CT Positive (family) history of thrombotic events: avoid estrogen-containing oral contraceptives and select alternative (e.g., copper intrauterine device, progestin-only contraceptive). Negative (family) history of thrombotic events: avoid additional risk factors (e.g., obesity, smoking). Published controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints. Clinical effect (S): long-standing discomfort (> 168 hr), permanent symptom or invalidating injury e.g. failure of prophylaxis of atrial fibrillation; venous thromboembolism; decreased effect of clopidogrel on inhibition of platelet aggregation; ADE resulting from increased bioavailability of phenytoin; INR > 6.0; neutropenia 0.5-1.0x10 9/l; leucopenia 1.0-2.0x10 9/l; thrombocytopenia 25-50x10 9/l; severe diarrhea
  • *See Methods or PMID: 18253145 for definition of "good" and "moderate" quality.
  • S: statistically significant difference.

PharmGKB gathers information regarding PGx on FDA drug labels from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels", and from FDA-approved FDA and EMA-approved (European Medicines Agency) EMA labels brought to our attention. Excerpts from the label and downloadable highlighted label PDFs are manually curated by PharmGKB.

Please note that some drugs may have been removed from or added to the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" without our knowledge. We periodically check the table for additions to this table and update PharmGKB accordingly.

There is currently no such list for European drug labels - we are working with the EMA to establish a list of European Public Assessment Reports (EPAR)s that contain PGx information. We are constructing this list by initially searching for drugs for which we have PGx-containing FDA drug labels - of these 44 EMA EPARs were identified and are being curated for pgx information.

We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA or other Medicine Agencies around the world - please contact feedback.



last updated 10/25/2013

FDA Label for eltrombopag and F5, SERPINC1

This label is on the FDA Biomarker List
Actionable PGx

Summary

The FDA-approved drug label for eltrombopag (PROMACTA) notes that patients taking the drug have an increased risk of thromboembolism if they have antithrombin III deficiency (SERPINC1) or Factor V Leiden (F5).

There's more of this label. Read more.





PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs6025 1601G>A, 1601G>G, 169519049T>C, 169519049T>T, 21007691T>C, 21007691T>T, 41721G>A, 41721G>G, Arg534=, Arg534Gln, F5:Factor V Leiden
T > C
Missense
Arg534Gln
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA159

Details

Cytogenetic Location: chr1 : q24.2 - q24.2
GP mRNA Boundary: chr1 : 169481192 - 169555769
GP Gene Boundary: chr1 : 169478192 - 169565769
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Factor V is an essential coagulation cofactor that enhances thrombin activation by factor Xa. In 1987, Jenny et al. determined the primary structure of the factor V gene, F5, by cloning from a human fetal liver cDNA library. Riddell et al. and Wang et al. mapped the gene to chromosome 1q23. F5 is 72,313 bp with a 6,672 bp coding region consisting of 25 exons. Factor V is a 330 kDa single chain glycoprotein comprised of 2,224 amino acid residues. [Article:3220473, 3110773, 11950687, 7989361, 2827731]

A total of 433 validated polymorphisms are described in the dbSNP database; 40 of these are in the coding region and 22 result in an amino acid change. Based on SeattleSNPsdata, 181 SNPs have an allele frequency greater than 5% and of the 31 common coding polymorphisms, 18 are nonsynonymous. The most commonly studied variant in F5 is the 1691G>A substitution (Arg506Gln; the nucleotide position relative to start of sequence for F5 published by Jenny et al. PMID:3110773, which is also known as Factor V Leiden (FVL). FVL prevents deactivation of coagulation factor V by activated protein C. [Article:8164741]

Venous thromboembolism (VTE) is the most well-studied phenotype associated with FVL. The risk of VTE is greater among individuals with FVL, particularly among smokers and women using oral contraceptives or estrogen hormone replacement therapy. The relationship with arterial thrombosis is less clear. FVL has also been implicated as a risk factor for small bowel infarction, mortality in sepsis, restensosis, Budd-Chiari syndrome, obstetric complications such as VTE, preeclampsia, abruptio placentae, fetal growth retardation, and late fetal loss, ischemic stroke and porencephaly. Numerous variations in F5 have been associated with states of thrombophilia or parahemophilia, however few have been extensively studied. [Article:16113779, 14574075, 16651467, 11859850, 12069454, 7877648, 9207293, 9245936, 9878639, 10666427, 11435304, 12070000, 16606808, 15534175, 14660985, 15118525]

Citation
M. Whirl-Carrillo, E.M. McDonagh, J. M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman and T.E. Klein. "Pharmacogenomics Knowledge for Personalized Medicine" Clinical Pharmacology & Therapeutics (2012) 92(4): 414-417. Full text
History

Submitted by Jennifer Bushwitz, Michael A. Pacanowski, Julie A. Johnson (PEAR)

Variant Summaries rs6025
Drugs
Diseases

Appendix

Gene Common Name coagulation factor V, proaccelerin, labile factor

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Common Pathway - (Reactome via Pathway Interaction Database)
  2. Exocytosis of Alpha granule - (Reactome via Pathway Interaction Database)
  3. extrinsic prothrombin activation pathway - (BioCarta via Pathway Interaction Database)
  4. intrinsic prothrombin activation pathway - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Publications related to F5: 89

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomic Association of Nonsynonymous SNPs in SIGLEC12, A1BG, and the Selectin Region and Cardiovascular Outcomes. Hypertension. 2013. McDonough Caitrin W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics of antiangiogenic and antineovascular therapies of age-related macular degeneration. Pharmacogenomics. 2012. Agosta Elisa, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenetics: From Bench to Byte- An Update of Guidelines. Clinical pharmacology and therapeutics. 2011. Swen J J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study. Pharmacogenetics and genomics. 2009. Maitland-van der Zee Anke-Hilse, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Predictive role of coagulation-balance gene polymorphisms in the efficacy of photodynamic therapy with verteporfin for classic choroidal neovascularization secondary to age-related macular degeneration. Pharmacogenetics and genomics. 2007. Parmeggiani Francesco, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Effect of Factor V Leiden and prothrombin G20210-->A mutations on thromboembolic risk in the national surgical adjuvant breast and bowel project breast cancer prevention trial. Journal of the National Cancer Institute. 2006. Abramson Neil, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Oral contraceptive use, thrombophilia and their interaction in young women with ischemic stroke. Haematologica. 2006. Martinelli Ida, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Polymorphism in the beta2-adrenergic receptor and lipoprotein lipase genes as risk determinants for idiopathic venous thromboembolism: a multilocus, population-based, prospective genetic analysis. Circulation. 2006. Zee Robert Y L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Risk of recurrent venous thromboembolism in patients with common thrombophilia: a systematic review. Archives of internal medicine. 2006. Ho Wai Khoon, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study. Health technology assessment (Winchester, England). 2006. Wu O, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls. Lancet. 2006. Ye Zheng, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis. 2006. Sipahi Tansu, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Expression of the normal factor V allele modulates the APC resistance phenotype in heterozygous carriers of the factor V Leiden mutation. Journal of thrombosis and haemostasis : JTH. 2005. Brugge J M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Prothrombotic mutations, hormone therapy, and venous thromboembolism among postmenopausal women: impact of the route of estrogen administration. Circulation. 2005. Straczek Céline, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. British journal of haematology. 2005. Wu Olivia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Matched case-control study on factor V Leiden and the prothrombin G20210A mutation in patients with ischemic stroke/transient ischemic attack up to the age of 60 years. Stroke; a journal of cerebral circulation. 2005. Lalouschek Wolfgang, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Oral contraceptives, hormone replacement therapy, thrombophilias and risk of venous thromboembolism: a systematic review. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) Study. Thrombosis and haemostasis. 2005. Wu Olivia, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Prothrombotic conditions, oral contraceptives, and the risk of ischemic stroke. Journal of thrombosis and haemostasis : JTH. 2005. Slooter A J C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. Archives of neurology. 2004. Casas Juan P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Estrogen plus progestin and risk of venous thrombosis. JAMA : the journal of the American Medical Association. 2004. Cushman Mary, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Venous thromboembolic disease in users of low-estrogen combined estrogen-progestin oral contraceptives. Contraception. 2004. Sidney Stephen, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Impaired APC cofactor activity of factor V plays a major role in the APC resistance associated with the factor V Leiden (R506Q) and R2 (H1299R) mutations. Blood. 2004. Castoldi Elisabetta, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Effect of factor V Leiden polymorphism in severe sepsis and on treatment with recombinant human activated protein C. Critical care medicine. 2004. Yan S Betty, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden polymorphism modifies sepsis outcome: evidence from animal studies. Critical care medicine. 2004. Weiler Hartmut, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden: a disorder of factor V anticoagulant function. Current opinion in hematology. 2004. Castoldi Elisabetta, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Annals of internal medicine. 2004. Juul Klaus, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Effect of second- and third-generation oral contraceptives on the protein C system in the absence or presence of the factor VLeiden mutation: a randomized trial. Blood. 2004. Kemmeren Jeanet M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. American heart journal. 2003. Kim Robert J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation. Blood. 2003. Castoldi Elisabetta, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia. Blood. 2003. Kerlin Bryce A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C. British journal of haematology. 2003. Mumford A D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Inherited and acquired risk factors for venous thromboembolic disease among women taking tamoxifen to prevent breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2003. Duggan Catherine, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Differential effects of oral and transdermal estrogen/progesterone regimens on sensitivity to activated protein C among postmenopausal women: a randomized trial. Arteriosclerosis, thrombosis, and vascular biology. 2003. Oger Emmanuel, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Prothrombotic coagulation defects and cardiovascular risk factors in young women with acute myocardial infarction. British journal of haematology. 2003. Tanis Bea C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden and risk of ischemic stroke in nonvalvular atrial fibrillation: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study. Journal of thrombosis and thrombolysis. 2003. Go Alan S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica. 2002. De Stefano Valerio, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden: The Copenhagen City Heart Study and 2 meta-analyses. Blood. 2002. Juul Klaus, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Effect of second- and third-generation oral contraceptives on fibrinolysis in the absence or presence of the factor V Leiden mutation. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis. 2002. Kemmeren J M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden, hormone replacement therapy, and risk of venous thromboembolic events in women with coronary disease. Arteriosclerosis, thrombosis, and vascular biology. 2002. Herrington David M, et al. PubMed
Venous thromboembolism in young women; role of thrombophilic mutations and oral contraceptive use. European heart journal. 2002. Legnani C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V and thrombotic disease: description of a janus-faced protein. Arteriosclerosis, thrombosis, and vascular biology. 2002. Nicolaes Gerry A F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden (G1691A) and prothrombin gene G20210A mutations as potential risk factors for venous thromboembolism after total hip or total knee replacement surgery. Thrombosis and haemostasis. 2002. Wåhlander K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Hormonal replacement therapy, prothrombotic mutations and the risk of venous thrombosis. British journal of haematology. 2002. Rosendaal F R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Effects of second and third generation oral contraceptives and their respective progestagens on the coagulation system in the absence or presence of the factor V Leiden mutation. Thrombosis and haemostasis. 2002. Kemmeren J M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Testing for factor V Leiden in patients with pulmonary or venous thromboembolism: a cost-effectiveness analysis. Medical decision making : an international journal of the Society for Medical Decision Making. 2002. Eckman Mark H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Hormone replacement therapy and acquired resistance to activated protein C: results of a randomized, double-blind, placebo-controlled trial. British journal of haematology. 2001. Høibraaten E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism. Annals of internal medicine. 2001. Middeldorp S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Risk of thrombosis associated with oral contraceptives of women from 97 families with inherited thrombophilia: high risk of thrombosis in carriers of the G20210A mutation of the prothrombin gene. Haematologica. 2001. Santamaría A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood. 2001. van Wijk R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Interaction of fibrinolysis and prothrombotic risk factors in neonates, infants and children with and without thromboembolism and underlying cardiac disease. a prospective study. Thrombosis research. 2001. Nowak-Göttl U, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V R506Q mutation-Leiden: an independent risk factor for venous thrombosis but not coronary artery disease. Journal of thrombosis and thrombolysis. 2001. Irani-Hakime N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Population genetics of factor V Leiden in Europe. Blood cells, molecules & diseases. 2001. Lucotte G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Extended anticoagulation for prevention of recurrent venous thromboembolism in carriers of factor V Leiden--cost-effectiveness analysis. Thrombosis and haemostasis. 2000. Marchetti M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese. American journal of hematology. 2000. Irani-Hakime N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Are factor V Leiden carriers who use oral contraceptives at extreme risk for venous thromboembolism?. The European journal of contraception & reproductive health care : the official journal of the European Society of Contraception. 2000. Spannagl M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. The New England journal of medicine. 2000. Gerhardt A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Coagulation factors II, V, VII, and X, prothrombin gene 20210G-->A transition, and factor V Leiden in coronary artery disease: high factor V clotting activity is an independent risk factor for myocardial infarction. Arteriosclerosis, thrombosis, and vascular biology. 1999. Redondo M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V. Blood. 1999. Thorelli E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Interaction between the G20210A mutation of the prothrombin gene and oral contraceptive use in deep vein thrombosis. Arteriosclerosis, thrombosis, and vascular biology. 1999. Martinelli I, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: prevalence and risk assessment. Arteriosclerosis, thrombosis, and vascular biology. 1999. Salomon O, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Increased frequency of genetic thrombophilia in women with complications of pregnancy. The New England journal of medicine. 1999. Kupferminc M J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Genetic risk factors in acute coronary disease. Haemostasis. 1999. Araújo F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation. 1998. Doggen C J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Decision analysis model of prolonged oral anticoagulant treatment in factor V Leiden carriers with first episode of deep vein thrombosis. BMJ (Clinical research ed.). 1998. Sarasin F P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Third generation oral contraceptives and heritable thrombophilia as risk factors of non-fatal venous thromboembolism. Thrombosis and haemostasis. 1998. Andersen B S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. American journal of medical genetics. 1997. Gregg J P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Annals of internal medicine. 1997. Price D T, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Leiden factor V mutation in four patients with small bowel infarctions. Gastroenterology. 1997. Heresbach D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. Gut. 1997. Mahmoud A E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood. 1997. Rosendaal F R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Prevalence of factor V Leiden mutation in non-European populations. Thrombosis and haemostasis. 1997. Pepe G, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Prevalence of factor V Leiden mutation in various populations. Genetic epidemiology. 1997. Herrmann F H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA : the journal of the American Medical Association. 1997. Ridker P M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Oral contraceptives enhance the risk of clinical manifestation of venous thrombosis at a young age in females homozygous for factor V Leiden. British journal of haematology. 1996. Rintelen C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. Thrombosis and haemostasis. 1996. Zöller B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Ischemic stroke in the elderly. Role of the common factor V mutation causing resistance to activated protein C. Stroke; a journal of cerebral circulation. 1996. Press R D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Molecular mechanisms of activated protein C resistance. Properties of factor V isolated from an individual with homozygosity for the Arg506 to Gln mutation in the factor V gene. The Biochemical journal. 1996. Aparicio C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Evidence against heterozygous coagulation factor V 1691 G-->A mutation with resistance to activated protein C being a risk factor for coronary artery disease and myocardial infarction. Journal of molecular medicine (Berlin, Germany). 1995. Prohaska W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
World distribution of factor V Leiden. Lancet. 1995. Rees D C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
The mechanism of inactivation of human platelet factor Va from normal and activated protein C-resistant individuals. The Journal of biological chemistry. 1995. Camire R M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. The New England journal of medicine. 1995. Ridker P M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood. 1995. Rosendaal F R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Characterization of the molecular defect in factor VR506Q. The Journal of biological chemistry. 1995. Kalafatis M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
The mechanism of inactivation of human factor V and human factor Va by activated protein C. The Journal of biological chemistry. 1994. Kalafatis M, et al. PubMed
Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet. 1994. Vandenbroucke J P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994. Bertina R M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Localization of the gene encoding human factor V to chromosome 1q21-25. Genomics. 1988. Wang H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats. Biochemistry. 1987. Kane W H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Complete cDNA and derived amino acid sequence of human factor V. Proceedings of the National Academy of Sciences of the United States of America. 1987. Jenny R J, et al. PubMed

LinkOuts

Entrez Gene:
2153
OMIM:
188055
227400
600880
601367
612309
UCSC Genome Browser:
NM_000130
RefSeq RNA:
NM_000130
RefSeq Protein:
NP_000121
MutDB:
F5
ALFRED:
LO000606M
HuGE:
F5
Comparative Toxicogenomics Database:
2153
ModBase:
P12259
HGNC:
3542

Common Searches