rs1962

This is a 3 prime utr variant variant in the THBD gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Atypical hemolytic-uremic syndrome with thrombomodulin anomaly

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About THBD

The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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