Variant Details for TBL2
Basic Information Top
| Gene Symbol: | TBL2 ( DKFZp434N024,MGC134739,WBSCR13,WS-betaTRP ) |
|---|---|
| Gene Full Name: | transducin (beta)-like 2 |
| Band: | 7q11.23 |
| Quick Links | Entrez ID:26608; OMIM: 605842; Uniprot ID:TBL2_HUMAN; ENSEMBL ID: ENSG00000106638; HGNC ID: 11586 |
| 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 | 7 | 0 | 0 | 1 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000132 | 7 | 7q11 | 72185990 | 76985990 | 4800000 | loss | external link | Jacquemont, 2006 |
| AutCNV0004261 | 7 | 7q11.23 | 72662415 | 74144177 | 1481762 | gain | external link | Sanders, 2011 |
| AutCNV0003815 | 7 | 7q11.23 | 72739232 | 74142229 | 1402997 | gain | external link | Levy, 2011 |
| AutCNV0003814 | 7 | 7q11.23 | 72719808 | 74143620 | 1423812 | gain | external link | Levy, 2011 |
| AutCNV0004264 | 7 | 7q11.23 | 72773570 | 74173250 | 1399680 | gain | external link | Sanders, 2011 |
| AutCNV0004263 | 7 | 7q11.23 | 72717647 | 74144177 | 1426530 | gain | external link | Sanders, 2011 |
| AutCNV0004262 | 7 | 7q11.23 | 72706490 | 74144177 | 1437687 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 72992858 | Y | Chapman NH, 2015 |
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! | |||||||