Variant Details for WBSCR17
Basic Information Top
| Gene Symbol: | WBSCR17 ( DKFZp434I2216,DKFZp761D2324,GALNT16,GALNT20,GALNTL3 ) |
|---|---|
| Gene Full Name: | Williams-Beuren syndrome chromosome region 17 |
| Band: | 7q11.23 |
| Quick Links | Entrez ID:64409; OMIM: NA; Uniprot ID:GLTL3_HUMAN; ENSEMBL ID: ENSG00000185274; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 3 | 2 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003933 | 7 | 7q11.22 | 70854566 | 70889748 | 35182 | gain | external link | Levy, 2011 |
| AutCNV0003607 | 7 | 7q11.22 | 70954231 | 71026463 | 72232 | gain | external link | Gai, 2011 |
| AutCNV0003606 | 7 | 7q11.22 | 70685310 | 70798935 | 113625 | loss | external link | Gai, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 71130393 | T | C | strong | Iossifov I, 2014 | ||||
| 7 | 71130575 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||