rs201686865
This variant is located in the FGA gene.
▶ClinVar annotation
Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Inborn genetic diseases; Familial dysfibrinogenemia;Familial visceral amyloidosis, Ostertag type;Congenital afibrinogenemia
View on ClinVar →About FGA
This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]
View all FGA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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