FGG Chromosome 4
Fibrinogen gamma chain
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What This Gene Does
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]
Gene Info
Gene Group
"Receptor ligands|Fibrinogen C domain containing|Fibrinogen chains"
Locus Type
gene with protein product
Location
4q32.1
Ensembl
ENSG00000171557
Associated Conditions (17)
Hypofibrinogenemia
Familial dysfibrinogenemia
Abnormal bleeding
Congenital afibrinogenemia
FGG-related disorder
Thrombocytopenia
Thrombus
Hereditary factor I deficiency disease
FIBRINOGEN PARIS 1
Fibrinogen Milano XII
digenic
Inborn genetic diseases
FIBRINOGEN TOKYO 2
Afibrinogenemia
Hereditary spastic paraplegia 4
FIBRINOGEN HAIFA 1
FIBRINOGEN ASAHI
Key Variants
RS1310452604
Conflicting classifications of pathogenicity
Hypofibrinogenemia, Familial dysfibrinogenemia, Hypofibrinogenemia
Health Risk
RS138511699
Conflicting classifications of pathogenicity
Abnormal bleeding, Congenital afibrinogenemia, FGG-related disorder
Health Risk
RS141597421
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Congenital afibrinogenemia
Health Risk
RS148685782
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Abnormal bleeding, Thrombocytopenia
Health Risk
RS150242757
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, FGG-related disorder, Congenital afibrinogenemia
Health Risk
RS187316301
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, FGG-related disorder, Congenital afibrinogenemia
Health Risk
RS191297318
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Congenital afibrinogenemia
Health Risk
RS202132393
Conflicting classifications of pathogenicity
Congenital afibrinogenemia, Congenital afibrinogenemia
Health Risk
RS2066862
Conflicting classifications of pathogenicity
FIBRINOGEN PARIS 1, Congenital afibrinogenemia, FGG-related disorder
Health Risk
RS2110841438
Conflicting classifications of pathogenicity
Health Risk
RS6063
Conflicting classifications of pathogenicity
Fibrinogen Milano XII, digenic, Hypofibrinogenemia
Health Risk
RS762488338
Conflicting classifications of pathogenicity
Familial dysfibrinogenemia, Congenital afibrinogenemia, Familial dysfibrinogenemia
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1310452604 | Health Risk | Conflicting classifications of pathogenicity | Hypofibrinogenemia, Familial dysfibrinogenemia, Hypofibrinogenemia |
| RS138511699 | Health Risk | Conflicting classifications of pathogenicity | Abnormal bleeding, Congenital afibrinogenemia, FGG-related disorder |
| RS141597421 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS148685782 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Abnormal bleeding, Thrombocytopenia |
| RS150242757 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, FGG-related disorder, Congenital afibrinogenemia |
| RS187316301 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, FGG-related disorder, Congenital afibrinogenemia |
| RS191297318 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS202132393 | Health Risk | Conflicting classifications of pathogenicity | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS2066862 | Health Risk | Conflicting classifications of pathogenicity | FIBRINOGEN PARIS 1, Congenital afibrinogenemia, FGG-related disorder |
| RS2110841438 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS6063 | Health Risk | Conflicting classifications of pathogenicity | Fibrinogen Milano XII, digenic, Hypofibrinogenemia |
| RS762488338 | Health Risk | Conflicting classifications of pathogenicity | Familial dysfibrinogenemia, Congenital afibrinogenemia, Familial dysfibrinogenemia |
| RS78257946 | Health Risk | Conflicting classifications of pathogenicity | Hypofibrinogenemia, Familial dysfibrinogenemia, Hypofibrinogenemia |
| RS121913094 | Health Risk | Likely pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS1414035000 | Health Risk | Likely pathogenic | Hypofibrinogenemia, Hypofibrinogenemia |
| RS1553965518 | Health Risk | Likely pathogenic | Inborn genetic diseases, Familial dysfibrinogenemia, Inborn genetic diseases |
| RS1560833290 | Health Risk | Likely pathogenic | — |
| RS2530852957 | Health Risk | Likely pathogenic | — |
| RS2530855793 | Health Risk | Likely pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS2530855860 | Health Risk | Likely pathogenic | — |
| RS587776837 | Health Risk | Likely pathogenic | Congenital afibrinogenemia, Hypofibrinogenemia, Congenital afibrinogenemia |
| RS121913087 | Health Risk | Pathogenic | FIBRINOGEN TOKYO 2, Hypofibrinogenemia, Afibrinogenemia |
| RS1553965519 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS1578810856 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS1578812509 | Health Risk | Pathogenic | Abnormal bleeding, Familial dysfibrinogenemia, Abnormal bleeding |
| RS2110850824 | Health Risk | Pathogenic | Familial dysfibrinogenemia, Familial dysfibrinogenemia |
| RS587776838 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS587776839 | Health Risk | Pathogenic | Congenital afibrinogenemia, Congenital afibrinogenemia |
| RS75848804 | Health Risk | Pathogenic | Hereditary spastic paraplegia 4, Congenital afibrinogenemia, Familial dysfibrinogenemia |
| RS121913088 | Health Risk | Pathogenic/Likely pathogenic | FIBRINOGEN HAIFA 1, Hypofibrinogenemia, Familial dysfibrinogenemia |
| RS121913091 | Health Risk | Pathogenic/Likely pathogenic | FIBRINOGEN ASAHI, Familial dysfibrinogenemia, FGG-related disorder |