Variant Details for DMD
Basic Information Top
| Gene Symbol: | DMD ( BMD,CMD3B,DXS142,DXS164,DXS206,DXS230,DXS239,DXS268,DXS269,DXS270,DXS272 ) |
|---|---|
| Gene Full Name: | dystrophin |
| Band: | Xp21.2-p21.1 |
| Quick Links | Entrez ID:1756; OMIM: 300377; Uniprot ID:DMD_HUMAN; ENSEMBL ID: ENSG00000198947; HGNC ID: 2928 |
| 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 | 12 | 0 | 2 | 3 | 0 | 0 | 17 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000962 | X | Xp21.1 | 33039056 | 33420671 | 381615 | gain | external link | Pinto, 2010 |
| AutCNV0000802 | X | Xp21.1 | 32190697 | 32406016 | 215319 | gain | external link | Pinto, 2010 |
| AutCNV0004428 | X | Xp21.1 | 32737291 | 32808444 | 71153 | gain | external link | Nord, 2011 |
| AutCNV0003446 | X | Xp21.1 | 31993673 | 32132330 | 138657 | loss | external link | Gai, 2011 |
| AutCNV0000711 | X | Xp21.1 | 32187292 | 32412024 | 224732 | gain | external link | Pagnamenta, 2011 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 2011 |
| AutCNV0004683 | X | Xp21.1 | 32548066 | 32603018 | 54952 | loss | external link | Gazzellone MJ, 2014 |
| AutCNV0004682 | X | Xp21.1 | 31805650 | 31959887 | 154237 | loss | external link | Gazzellone MJ, 2014 |
| AutCNV0005747 | X | gain | C Yuen RK, 2017 | |||||
| AutCNV0005626 | X | X | loss | Mercati O, 2017 | ||||
| AutCNV0005750 | X | gain | C Yuen RK, 2017 | |||||
| AutCNV0005937 | X | Xp21.1 | 32571299 | 32621270 | 49971 | loss | external link | Brandler WM, 2018 |
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 |
|---|---|---|---|---|---|---|
| X | 32509609 | G | A | mosaic | PASM | Dou Y, 2017 |
| X | 32383221 | C | T | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| X | 32364161 | G | C | p.Q1829E | Y | deleterious | 0.1842 | Brett M, 2014 | |
| chrX | 31881908 | 31kbdel | Y | Yuen RK, 2015 | |||||
| X | 33144848 | - | T | Doan RN, 2016 |
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! | |||||||