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 |
|---|---|---|---|
| RS121909605 | Health Risk | Conflicting classifications of pathogenicity | FIBRINOGEN ROUEN 1, Familial dysfibrinogenemia, Familial visceral amyloidosis |
| RS139146037 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS182736373 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS199554805 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type |
| RS199571440 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type |
| RS200378626 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type |
| RS201105899 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS201686865 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS368446857 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS369606098 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type |
| RS370873387 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS560732073 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type |
| RS771429165 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, Congenital afibrinogenemia |
| RS77531839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78506343 | Health Risk | Conflicting classifications of pathogenicity | Familial visceral amyloidosis, Ostertag type, FGA-related disorder |
| RS934668242 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, FGA-related disorder, Congenital afibrinogenemia |
| RS121909608 | Health Risk | Likely pathogenic | FIBRINOGEN AARHUS 1, Hypofibrinogenemia, FGA-related disorder |
| RS121909613 | Health Risk | Likely pathogenic | FIBRINOGEN DUSART, Deep venous thrombosis, Familial dysfibrinogenemia |
| RS1302701490 | Health Risk | Likely pathogenic | Familial visceral amyloidosis, Ostertag type, Familial visceral amyloidosis |
| RS1403508334 | Health Risk | Likely pathogenic | FIBRINOGEN DETROIT 1, FIBRINOGEN DETROIT 1 |
| RS1578795296 | Health Risk | Likely pathogenic | Hypofibrinogenemia, Hypofibrinogenemia |
| RS1578795880 | Health Risk | Likely pathogenic | — |
| RS2110808262 | Health Risk | Likely pathogenic | — |
| RS2110819800 | Health Risk | Likely pathogenic | — |
| RS2530819182 | Health Risk | Likely pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS2530820376 | Health Risk | Likely pathogenic | Familial dysfibrinogenemia, Familial visceral amyloidosis, Ostertag type |
| RS2530822869 | Health Risk | Likely pathogenic | FGA-related disorder, FGA-related disorder |
| RS2530830192 | Health Risk | Likely pathogenic | FGA-related disorder, FGA-related disorder |
| RS745804153 | Health Risk | Likely pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS778571941 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1184440187 | Health Risk | Pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS1214070111 | Health Risk | Pathogenic | Hypofibrinogenemia, Hypofibrinogenemia |
| RS121909606 | Health Risk | Pathogenic | Dysfibrinogenemia, Familial dysfibrinogenemia, FGA-related disorder |
| RS121909607 | Health Risk | Pathogenic | Dysfibrinogenemia, Hypofibrinogenemia, Abnormal bleeding |
| RS121909612 | Health Risk | Pathogenic | Familial visceral amyloidosis, Ostertag type, Familial dysfibrinogenemia |
| RS121909614 | Health Risk | Pathogenic | FIBRINOGEN CANTERBURY, FIBRINOGEN CANTERBURY |
| RS146387238 | Health Risk | Pathogenic | Congenital afibrinogenemia, Familial hypodysfibrinogenemia, Hypofibrinogenemia |
| RS1578796476 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS1578798730 | Health Risk | Pathogenic | — |
| RS2110806028 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS2110812642 | Health Risk | Pathogenic | — |
| RS2530819504 | Health Risk | Pathogenic | — |
| RS2530820233 | Health Risk | Pathogenic | FGA-related disorder, FGA-related disorder |
| RS2530829969 | Health Risk | Pathogenic | — |
| RS575433349 | Health Risk | Pathogenic | — |
| RS587777761 | Health Risk | Pathogenic | Familial visceral amyloidosis, Ostertag type, Familial visceral amyloidosis |
| RS587777762 | Health Risk | Pathogenic | Familial visceral amyloidosis, Ostertag type, Familial visceral amyloidosis |
| RS606231225 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS755117226 | Health Risk | Pathogenic | Congenital afibrinogenemia, Familial visceral amyloidosis, Ostertag type |
| RS763715993 | Health Risk | Pathogenic | Familial dysfibrinogenemia, Congenital afibrinogenemia, Familial dysfibrinogenemia |