FGA Chromosome 4
Fibrinogen alpha chain
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What This Gene Does
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]
Gene Info
Gene Group
"Receptor ligands|Fibrinogen C domain containing|Fibrinogen chains"
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000171560
Associated Conditions (19)
FIBRINOGEN ROUEN 1
Familial dysfibrinogenemia
Familial visceral amyloidosis
Ostertag type
Congenital afibrinogenemia
Inborn genetic diseases
FGA-related disorder
FIBRINOGEN AARHUS 1
Hypofibrinogenemia
FIBRINOGEN DUSART
Deep venous thrombosis
FIBRINOGEN DETROIT 1
See cases
Dysfibrinogenemia
Abnormal bleeding
FIBRINOGEN CANTERBURY
Familial hypodysfibrinogenemia
Afibrinogenemia
Congenital factor V deficiency
Key Variants
RS121909605
Conflicting classifications of pathogenicity
FIBRINOGEN ROUEN 1, Familial dysfibrinogenemia, Familial visceral amyloidosis
Health Risk
RS139146037
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia
Health Risk
RS182736373
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia
Health Risk
RS199554805
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type
Health Risk
RS199571440
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type
Health Risk
RS200378626
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type
Health Risk
RS201105899
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia
Health Risk
RS201686865
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia
Health Risk
RS368446857
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia
Health Risk
RS369606098
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type
Health Risk
RS370873387
Conflicting classifications of pathogenicity
Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia
Health Risk
RS560732073
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1299596156 | Health Risk | Pathogenic/Likely pathogenic | Afibrinogenemia, Congenital afibrinogenemia, Familial visceral amyloidosis |
| RS140911890 | Health Risk | Pathogenic/Likely pathogenic | FGA-related disorder, Familial dysfibrinogenemia, Congenital afibrinogenemia |
| RS2530823524 | Health Risk | Pathogenic/Likely pathogenic | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS762964798 | Health Risk | Pathogenic/Likely pathogenic | Hypofibrinogenemia, Familial dysfibrinogenemia, FGA-related disorder |
| RS773619297 | Health Risk | Pathogenic/Likely pathogenic | Familial dysfibrinogenemia, Congenital factor V deficiency, Familial visceral amyloidosis |
| RS776817952 | Health Risk | Pathogenic/Likely pathogenic | Hypofibrinogenemia, Familial dysfibrinogenemia, Familial visceral amyloidosis |
| RS778779380 | Health Risk | Pathogenic/Likely pathogenic | Congenital afibrinogenemia, Familial dysfibrinogenemia, Familial visceral amyloidosis |