rs746190838
This variant is located in the PROC gene.
▶ClinVar annotation
Thromboembolism;Deep venous thrombosis; Deep venous thrombosis; not provided; Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive; PROC-related disorder; Thrombophilia due to protein C deficiency, autosomal recessive
View on ClinVar →About PROC
This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]
View all PROC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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