F8 Chromosome X
Coagulation factor VIII
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What This Gene Does
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Multicopper oxidase family
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000185010
Associated Conditions (21)
Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Thrombophilia
X-linked
due to factor 8 defect
Hemorrhage
F8-related disorder
Inborn genetic diseases
Nonpapillary renal cell carcinoma
Mild hemophilia A
Thyroid cancer
nonmedullary
1
Abnormal bleeding
Thrombocytopenia
See cases
FACTOR VIII (EAST HARTFORD)
Familial aortopathy
FACTOR VIII (OKAYAMA)
Abnormality of coagulation
+1 more conditions
Key Variants
RS1178203514
Conflicting classifications of pathogenicity
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
Health Risk
RS1189348665
Conflicting classifications of pathogenicity
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
Health Risk
RS1258333672
Conflicting classifications of pathogenicity
Thrombophilia, X-linked, due to factor 8 defect
Health Risk
RS137852388
Conflicting classifications of pathogenicity
Hereditary factor VIII deficiency disease, Thrombophilia, X-linked
Health Risk
RS137852461
Conflicting classifications of pathogenicity
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease, Thrombophilia
Health Risk
RS140027831
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142347597
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145089334
Conflicting classifications of pathogenicity
Hereditary factor VIII deficiency disease, Inborn genetic diseases, Hereditary factor VIII deficiency disease
Health Risk
RS1557278265
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary factor VIII deficiency disease, Inborn genetic diseases
Health Risk
RS1557281261
Conflicting classifications of pathogenicity
Hereditary factor VIII deficiency disease, Thrombophilia, X-linked
Health Risk
RS1569559955
Conflicting classifications of pathogenicity
Health Risk
RS1603435026
Conflicting classifications of pathogenicity
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
Health Risk
All Variants (528)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2123993603 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Nonpapillary renal cell carcinoma, Hereditary factor VIII deficiency disease |
| RS2123996454 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124000594 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124050215 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124052011 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124082414 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124094299 | Health Risk | Likely pathogenic | Thrombophilia, X-linked, due to factor 8 defect |
| RS2124105158 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124106062 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124109849 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124134359 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124141036 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124174443 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2124174458 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2148555575 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2148555597 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2148567338 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2148568062 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Thyroid cancer, nonmedullary |
| RS2148583736 | Health Risk | Likely pathogenic | — |
| RS2148584915 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Nonpapillary renal cell carcinoma, Hereditary factor VIII deficiency disease |
| RS2523812635 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523839082 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523839448 | Health Risk | Likely pathogenic | F8-related disorder, F8-related disorder |
| RS2523841357 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523876957 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523879905 | Health Risk | Likely pathogenic | F8-related disorder, F8-related disorder |
| RS2523882193 | Health Risk | Likely pathogenic | F8-related disorder, F8-related disorder |
| RS2523883814 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523883958 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523884149 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523885415 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523885648 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523885738 | Health Risk | Likely pathogenic | — |
| RS2523887223 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523887246 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523913908 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523932916 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523933185 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523933192 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523945705 | Health Risk | Likely pathogenic | — |
| RS2523950236 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523950340 | Health Risk | Likely pathogenic | — |
| RS2523951122 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523951206 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523951343 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523954426 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523954592 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523969707 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523969776 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS2523977029 | Health Risk | Likely pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |