| Entrez Gene ID | 7450 |
|---|---|
| Official Gene Symbol | VWF (GeneCards) |
| Full name | von Willebrand factor |
| Location | 12p13.31 |
| Other ids | Vega : OTTHUMG00000168265 MIM : 613160 HGNC : HGNC:12726 Ensembl : ENSG00000110799 |
| Other names | VWD, F8VWF |
| Summary | This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16353 | 7450 | VWF | 12 | 6142448 | 6142448 | Asymptomatic | HiSeq X Ten |
| 16681 | 7450 | VWF | 12 | 6299421 | 6299421 | Asymptomatic | HiSeq X Ten |
| 16867 | 7450 | VWF | 12 | 6294528 | 6294528 | Asymptomatic | HiSeq X Ten |
| 16988 | 7450 | VWF | 12 | 6293751 | 6293751 | Cockayne syndrome | HiSeq X Ten |
| 17055 | 7450 | VWF | 12 | 6099447 | 6099447 | Xeroderma Pigmentosum | HiSeq X Ten |
| 17082 | 7450 | VWF | 12 | 6115662 | 6115662 | Xeroderma Pigmentosum | HiSeq X Ten |
| 29277 | 7450 | VWF | 12 | 6094774 | 6094774 | Autism Spectrum Disorders | HiSeq X Ten PASM |
| 29390 | 7450 | VWF | 12 | 6122757 | 6122757 | Autism Spectrum Disorders | HiSeq X Ten PASM MiSeq |