FGB Chromosome 4
Fibrinogen beta chain
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What This Gene Does
The protein encoded by this gene is the beta 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. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"Receptor ligands|Fibrinogen C domain containing|Fibrinogen chains"
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000171564
Associated Conditions (12)
Congenital afibrinogenemia
Familial dysfibrinogenemia
Inborn genetic diseases
Deep venous thrombosis
FGB-related disorder
Abnormal bleeding
Hypofibrinogenemia
Thrombocytopenia
Afibrinogenemia
Thrombus
FIBRINOGEN CHRISTCHURCH 2
See cases
Key Variants
RS1282469317
Conflicting classifications of pathogenicity
Health Risk
RS142937995
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Congenital afibrinogenemia
Health Risk
RS149599496
Conflicting classifications of pathogenicity
Familial dysfibrinogenemia, Congenital afibrinogenemia, Inborn genetic diseases
Health Risk
RS151153332
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187641148
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Congenital afibrinogenemia
Health Risk
RS201909029
Conflicting classifications of pathogenicity
Deep venous thrombosis, Congenital afibrinogenemia, FGB-related disorder
Health Risk
RS2227434
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Congenital afibrinogenemia
Health Risk
RS371842822
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Congenital afibrinogenemia
Health Risk
RS6054
Conflicting classifications of pathogenicity
Abnormal bleeding, Congenital afibrinogenemia, Hypofibrinogenemia
Health Risk
RS770246669
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS111502670
Likely pathogenic
Familial dysfibrinogenemia, Familial dysfibrinogenemia
Health Risk
RS121909616
Likely pathogenic
FIBRINOGEN CHRISTCHURCH 2, Hypofibrinogenemia, See cases
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1282469317 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142937995 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS149599496 | Health Risk | Conflicting classifications of pathogenicity | Familial dysfibrinogenemia, Congenital afibrinogenemia, Inborn genetic diseases |
| RS151153332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS187641148 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS201909029 | Health Risk | Conflicting classifications of pathogenicity | Deep venous thrombosis, Congenital afibrinogenemia, FGB-related disorder |
| RS2227434 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS371842822 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS6054 | Health Risk | Conflicting classifications of pathogenicity | Abnormal bleeding, Congenital afibrinogenemia, Hypofibrinogenemia |
| RS770246669 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS111502670 | Health Risk | Likely pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS121909616 | Health Risk | Likely pathogenic | FIBRINOGEN CHRISTCHURCH 2, Hypofibrinogenemia, See cases |
| RS2530766247 | Health Risk | Likely pathogenic | FGB-related disorder, FGB-related disorder |
| RS2530775972 | Health Risk | Likely pathogenic | Familial dysfibrinogenemia, FGB-related disorder, Familial dysfibrinogenemia |
| RS2530787207 | Health Risk | Likely pathogenic | — |
| RS121909621 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS121909622 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS121909624 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS1578783532 | Health Risk | Pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS1578785111 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS1730132238 | Health Risk | Pathogenic | — |
| RS606231223 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS606231224 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS121909625 | Health Risk | Pathogenic/Likely pathogenic | Congenital afibrinogenemia, Hypofibrinogenemia, Afibrinogenemia |