rs121913087

This is a variant in the FGG gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic★★★☆

10 submitters28 publications

Afibrinogenemia; FGG-related disorder; FIBRINOGEN TOKYO 2; Familial dysfibrinogenemia; Hypofibrinogenemia

About FGG

The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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