| Variant ID | 29390 |
|---|---|
| Entrez Gene ID | 7450 |
| Gene | VWF (GeneCards) |
| Location | hg19 12:6122757-6122757
hg38 12:6013591-6013591 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.6122757 C>T (Genome Assembly: hg19) |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2150072 |
| Variant occurences in COSMIC | 2(central_nervous_system) |
| EIGEN score | -0.1765 |
| CADD Raw score (version 1.3) | 2.864671 (Deleterious) |
| FATHMM raw prediction score | 0.25453 (Tolerated) |
| SIFT score | 0.058 (Tolerated) |
| LRT score | 0.031 (Tolerated) |
| MutationTaster score | 0.902 (Deleterious) |
| MutatioinAssessor score | 1.94 (Deleterious) |
| PROVEAN score | -0.99 (Tolerated) |
| MetaSVM score | -0.217 (Tolerated) |
| MetaLR score | 0.44 (Tolerated) |
| MCAP score | 0.302 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.32 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.94 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.019 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.984 |
| Deleterious probability by iFish2 | 0.1745 (Neutral) |
| Deleterious probability by DeFine | 0.919 (Deleterious) |
| 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 | 28714951.66 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |