rs1800578
This is a variant in the THBD gene that changes a proline to an serine.
▶ClinVar annotation
Atypical hemolytic-uremic syndrome; Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; THBD-related disorder; Thrombomodulin-related bleeding disorder (THPH12)
View on ClinVar →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]
View all THBD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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