Overview
F5 encodes coagulation factor V. The Leiden mutation is one of the most common hereditary thrombophilias in Europe.
1q24.2 (Chromosome 1)
Detoxification
Autosomal dominant
5% of Europeans
Function & Significance
Factor V is an important protein in the blood clotting cascade. The Factor V Leiden mutation (R506Q) makes the protein resistant to inactivation by activated protein C, leading to an increased tendency toward clotting.
⚠️ Thrombosis Risk
Increased risk for:
- Heterozygous: 5-10 fold increased risk
- Homozygous: 50-100 fold increased risk
- Especially during: Pill use, pregnancy, surgery
🧬 Relevant SNPs
The Factor V Leiden mutation:
1:169519049
/
Significance: Factor V Leiden (R506Q) – most common hereditary thrombophilia. The C allele leads to APC resistance (activated protein C cannot inactivate Factor V).
💊 Management
- Thrombosis Prophylaxis: In risk situations (surgery, long flights)
- Contraception: Avoid estrogen-containing pills
- Pregnancy: Close monitoring, heparin if necessary
- Lifestyle: Exercise, maintain normal weight
- Compression Stockings: During long-distance travel
📚 Data Sources
The information on this page is based on the following scientific sources:
- OMIM: #612309 – Online Mendelian Inheritance in Man
- dbSNP: rs6025 – SNP Database (NCBI)
- ClinVar: Clinical Variant Database (NCBI)
- Factor V Leiden Guidelines: Thrombophilia Clinical Practice
- PubMed: Thrombosis & Hemostasis Research
Last Update: February 2026
Biological Function
Associated Conditions
Analyzed Markers
Factor V Leiden (R506Q) - Most common hereditary thrombophilia