F7 Chromosome 13
Coagulation factor VII
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What This Gene Does
This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000057593
Associated Conditions (10)
Abnormal bleeding
Congenital factor VII deficiency
F7-related disorder
Myocardial infarction
susceptibility to
Factor VII deficiency
decreased susceptibility to
Abnormality of coagulation
See cases
Factor VII Padua
Key Variants
RS1250204261
Conflicting classifications of pathogenicity
Abnormal bleeding, Abnormal bleeding
Health Risk
RS1269916662
Conflicting classifications of pathogenicity
Health Risk
RS141219108
Conflicting classifications of pathogenicity
Congenital factor VII deficiency, F7-related disorder, Congenital factor VII deficiency
Health Risk
RS1438503836
Conflicting classifications of pathogenicity
Congenital factor VII deficiency, Myocardial infarction, susceptibility to
Health Risk
RS150525536
Conflicting classifications of pathogenicity
Congenital factor VII deficiency, Congenital factor VII deficiency
Health Risk
RS184573698
Conflicting classifications of pathogenicity
Congenital factor VII deficiency, Congenital factor VII deficiency
Health Risk
RS2036074360
Conflicting classifications of pathogenicity
Congenital factor VII deficiency, Congenital factor VII deficiency
Health Risk
RS3093248
Conflicting classifications of pathogenicity
Factor VII deficiency, Myocardial infarction, susceptibility to
Health Risk
RS3093266
Conflicting classifications of pathogenicity
Factor VII deficiency, Factor VII deficiency
Health Risk
RS375134790
Conflicting classifications of pathogenicity
Factor VII deficiency, Congenital factor VII deficiency, Factor VII deficiency
Health Risk
RS45572939
Conflicting classifications of pathogenicity
Factor VII deficiency, Factor VII deficiency
Health Risk
RS519650
Conflicting classifications of pathogenicity
Factor VII deficiency, Factor VII deficiency
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121964928 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS121964930 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS121964932 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS121964933 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS121964935 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS121964937 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS1263426144 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS1293477494 | Health Risk | Pathogenic | Congenital factor VII deficiency, Congenital factor VII deficiency |
| RS137919286 | Health Risk | Pathogenic | F7-related disorder, F7-related disorder |
| RS146795869 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS1566906827 | Health Risk | Pathogenic | Congenital factor VII deficiency, Congenital factor VII deficiency, Myocardial infarction |
| RS2142229406 | Health Risk | Pathogenic | — |
| RS2142234775 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS267606790 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS387906507 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS387906508 | Health Risk | Pathogenic | Factor VII deficiency, Factor VII deficiency |
| RS745374448 | Health Risk | Pathogenic | F7-related disorder, Congenital factor VII deficiency, F7-related disorder |
| RS748874982 | Health Risk | Pathogenic | — |
| RS756151764 | Health Risk | Pathogenic | Congenital factor VII deficiency, F7-related disorder, Congenital factor VII deficiency |
| RS786205091 | Health Risk | Pathogenic | Factor VII deficiency, Congenital factor VII deficiency, Factor VII deficiency |
| RS1056071555 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Factor VII deficiency, Congenital factor VII deficiency |
| RS1160146175 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Congenital factor VII deficiency, Factor VII deficiency |
| RS1168560365 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor VII deficiency, Congenital factor VII deficiency |
| RS121964927 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, See cases, Congenital factor VII deficiency |
| RS121964929 | Health Risk | Pathogenic/Likely pathogenic | F7-related disorder, Factor VII deficiency, Congenital factor VII deficiency |
| RS121964931 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Congenital factor VII deficiency, Myocardial infarction |
| RS121964934 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Congenital factor VII deficiency, Myocardial infarction |
| RS1418012389 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Congenital factor VII deficiency, Factor VII deficiency |
| RS200016360 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Congenital factor VII deficiency, Myocardial infarction |
| RS201991361 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor VII deficiency, Myocardial infarction, susceptibility to |
| RS36209567 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Abnormal bleeding, Myocardial infarction |
| RS372577568 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor VII deficiency, See cases, Myocardial infarction |
| RS531225271 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Congenital factor VII deficiency, F7-related disorder |
| RS750457207 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Abnormal bleeding, Congenital factor VII deficiency |
| RS764741909 | Health Risk | Pathogenic/Likely pathogenic | Congenital factor VII deficiency, Myocardial infarction, susceptibility to |
| RS766294997 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS769452933 | Health Risk | Pathogenic/Likely pathogenic | Factor VII deficiency, Congenital factor VII deficiency, Factor VII deficiency |
| RS779658565 | Health Risk | Pathogenic/Likely pathogenic | Myocardial infarction, susceptibility to, Congenital factor VII deficiency |
| RS121964926 | Health Risk | Pathogenic/Likely pathogenic; other | Factor VII deficiency, Congenital factor VII deficiency, F7-related disorder |