Variant Details for LTBP3
Basic Information Top
| Gene Symbol: | LTBP3 ( DKFZp586M2123,FLJ33431,FLJ39893,FLJ42533,FLJ44138,FLJ45576,LTBP-3,LTBP2,STHAG6,pp6425 ) |
|---|---|
| Gene Full Name: | latent transforming growth factor beta binding protein 3 |
| Band: | 11q13.1 |
| Quick Links | Entrez ID:4054; OMIM: 602090; Uniprot ID:LTBP3_HUMAN; ENSEMBL ID: ENSG00000168056; HGNC ID: 6716 |
| 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 | 1 | 2 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004511 | 11 | 11q13.1 | 65157938 | 65501442 | 343504 | loss | external link | Nord, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 65308738 | CCTT | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 11 | 65308636 | C | T | PCR or Sanger sequencing | deleterious | 0.9337 | 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! | |||||||