rs199469503
This is a stop gained variant in the PROS1 gene.
▶ClinVar annotation
Protein S deficiency disease; Thrombophilia due to protein S deficiency, autosomal dominant (THPH5); Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)
View on ClinVar →About PROS1
This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
View all PROS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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