Variant Details for DIAPH3
Basic Information Top
| Gene Symbol: | DIAPH3 ( DKFZp434C0931,DKFZp686A13178,DRF3,FLJ34705,diap3,mDia2 ) |
|---|---|
| Gene Full Name: | diaphanous homolog 3 (Drosophila) |
| Band: | 13q21.2 |
| Quick Links | Entrez ID:81624; OMIM: NA; Uniprot ID:DIAP3_HUMAN; ENSEMBL ID: ENSG00000139734; HGNC ID: 15480 |
| 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 | 0 | 1 | 0 | 1 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000266 | 13 | 13q14-22 | 40602000 | 78901999 | 38299999 | loss | external link | Steele, 2001 |
| AutCNV0000197 | 13 | 13q21.1-21.32 | 58692746 | 69244173 | 10551427 | gain | external link | Daniel, 2007 |
| AutCNV0000672 | 13 | 13q21.2 | 53886995 | 64184453 | 10297458 | loss | external link | Vorstman, 2010 |
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 |
|---|---|---|---|---|---|---|
| 13 | 60548519 | C | T | Parental Mosaic Transmitted | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| c.2156T>C | p.I719T | Y | Xie J, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||