Variant Details for LTBP1
Basic Information Top
| Gene Symbol: | LTBP1 ( MGC163161 ) |
|---|---|
| Gene Full Name: | latent transforming growth factor beta binding protein 1 |
| Band: | 2p22.3 |
| Quick Links | Entrez ID:4052; OMIM: 150390; Uniprot ID:LTBP1_HUMAN; ENSEMBL ID: ENSG00000049323; HGNC ID: 6714 |
| 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 | 6 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000202 | 2 | 2p22.3 | 32736561 | 33436887 | 700326 | gain | external link | Christian, 2008 |
| AutCNV0002367 | 2 | 2p22.3 | 32630434 | 33328394 | 697960 | gain | external link | Pinto, 2010 |
| AutCNV0002366 | 2 | 2p22.3 | 32626617 | 33331219 | 704602 | gain | external link | Pinto, 2010 |
| AutCNV0002365 | 2 | 2p22.3 | 32626617 | 33320957 | 694340 | gain | external link | Pinto, 2010 |
| AutCNV0002238 | 2 | 2p22.3 | 32630434 | 33331219 | 700785 | gain | external link | Pinto, 2010 |
| AutCNV0004040 | 2 | 2p22.3 | 32630786 | 33331963 | 701177 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 33572486 | A | C | c.2805A>C | p.E935Asp | Sanger sequencing | neutral | 0.0549 | Sanders SJ, 2012 |
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! | |||||||