| Variant ID | 16988 |
|---|---|
| Entrez Gene ID | 7450 |
| Gene | VWF (GeneCards) |
| Location | hg19 12:6293751-6293751
hg38 12:6184585-6184585 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.6293751 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.0455 |
| CADD Raw score (version 1.3) | 0.102594 (Deleterious) |
| FATHMM raw prediction score | 0.12173 (Tolerated) |
| Deleterious probability by DeFine | 0.1946 (Neutral) |
| Entrez Gene ID | 7450 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VWF (GeneCards) |
| Number of variants in VWF in this database | 8 (view all the variants) |
| Full name | von Willebrand factor |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000168265 OMIM: 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] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |