Variant Details for TBX1
Basic Information Top
| Gene Symbol: | TBX1 ( CAFS,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCFS ) |
|---|---|
| Gene Full Name: | T-box 1 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:6899; OMIM: 602054; Uniprot ID:TBX1_HUMAN; ENSEMBL ID: ENSG00000184058; HGNC ID: 11592 |
| 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 | 21 | 0 | 0 | 0 | 0 | 1 | 22 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000269 | 22 | 22q11 | loss | Roubertie, 2001 | ||||
| AutCNV0000270 | 22 | 22q11 | loss | Niklasson, 2002 | ||||
| AutCNV0000031 | 22 | 22q11.21 | 19132346 | 21982246 | 2849900 | gain | external link | Szatmari, 2007 |
| AutCNV0000030 | 22 | 22q11.21 | 19132346 | 21449446 | 2317100 | loss | external link | Szatmari, 2007 |
| AutCNV0000244 | 22 | 22q11.21 | 19065949 | 21342880 | 2276931 | gain | external link | Christian, 2008 |
| AutCNV0000189 | 22 | 22q11.2 | 18890946 | 23222208 | 4331262 | gain | external link | Marshall, 2008 |
| AutCNV0000188 | 22 | 22q11.2 | 18640346 | 21461646 | 2821300 | loss | external link | Marshall, 2008 |
| AutCNV0000158 | 22 | 22q11.21 | 18890946 | 23222208 | 4331262 | gain | external link | Marshall, 2008 |
| AutCNV0000157 | 22 | 22q11.21 | 18640346 | 21461646 | 2821300 | loss | external link | Marshall, 2008 |
| AutCNV0000392 | 22 | 22q11.2 | 17920000 | 25970000 | 8050000 | gain | external link | Ramelli, 2008 |
| AutCNV0000826 | 22 | 22q11.21 | 18861748 | 21489918 | 2628170 | gain | external link | Pinto, 2010 |
| AutCNV0000760 | 22 | 22q11.21 | 18877787 | 21465780 | 2587993 | gain | external link | Pinto, 2010 |
| AutCNV0000759 | 22 | 22q11.21 | 18877787 | 21463730 | 2585943 | gain | external link | Pinto, 2010 |
| AutCNV0004391 | 22 | 22q11.21 | 18877787 | 21463730 | 2585943 | gain | external link | Sanders, 2011 |
| AutCNV0004390 | 22 | 22q11.21 | 18877787 | 21461274 | 2583487 | gain | external link | Sanders, 2011 |
| AutCNV0004389 | 22 | 22q11.21 | 18861748 | 21489918 | 2628170 | gain | external link | Sanders, 2011 |
| AutCNV0004388 | 22 | 22q11.21 | 18634900 | 21456200 | 2821300 | loss | external link | Sanders, 2011 |
| AutCNV0003864 | 22 | 22q11.21 | 18869508 | 20313261 | 1443753 | loss | external link | Levy, 2011 |
| AutCNV0000722 | 22 | 22q11.21 | 18890271 | 21561514 | 2671243 | gain | external link | Bremer, 2011 |
| AutCNV0004392 | 22 | 22q11.21-q11.22 | 18885500 | 23216762 | 4331262 | gain | external link | Sanders, 2011 |
| AutCNV0004756 | 9 | loss | Lionel AC, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000028 | 22q11.21 | 22 | D22S264 | 1.3 | - | - | Bailey, 1998 |