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Prothrombin G20210A

Meaning

Prothrombin G20210A is a specific, common genetic polymorphism involving a single nucleotide substitution (Guanine to Adenine) at position 20210 in the gene encoding prothrombin, also known as coagulation factor II. This mutation is clinically significant because it is associated with elevated plasma levels of prothrombin, leading to a prothrombotic state. Individuals carrying this variant have an increased risk for developing venous thromboembolism (VTE), which includes deep vein thrombosis and pulmonary embolism. Genetic screening for this mutation is an important component of assessing thrombophilia risk, especially in the context of hormonal therapies.