Variant Details for MTMR10
Basic Information Top
| Gene Symbol: | MTMR10 ( FLJ20313 ) |
|---|---|
| Gene Full Name: | myotubularin related protein 10 |
| Band: | 15q13.3 |
| Quick Links | Entrez ID:54893; OMIM: NA; Uniprot ID:MTMRA_HUMAN; ENSEMBL ID: ENSG00000166912; HGNC ID: 25999 |
| 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 | 32 | 0 | 0 | 0 | 0 | 1 | 33 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000284 | 15 | 15q11-13 | gain | Wolpert, 2000 | ||||
| AutCNV0000273 | 15 | 15q11.2-13 | gain | Wassink, 2001 | ||||
| AutCNV0000272 | 15 | 15q11.2-13 | loss | Wassink, 2001 | ||||
| AutCNV0000258 | 15 | 15q11-13 | gain | Silva, 2002 | ||||
| AutCNV0000290 | 15 | 15q11-13 | gain | Keller, 2003 | ||||
| AutCNV0000287 | 15 | 15p11-q13 | 20330217 | 32990417 | 12660200 | gain | external link | Sahoo, 2005 |
| AutCNV0000133 | 15 | 15q11-13 | 25184942 | 31748742 | 6563800 | gain | external link | Jacquemont, 2006 |
| AutCNV0000010 | 15 | 15q11-13.33 | 20266957 | 32969479 | 12702522 | gain | external link | Sebat, 2007 |
| AutCNV0000279 | 15 | 15q11.2-13 | gain | Wassink, 2007 | ||||
| AutCNV0000268 | 15 | 15q11-13 | 25257428 | 33573585 | 8316157 | gain | external link | Kwasnicka-Crawford, 2007 |
| AutCNV0000149 | 15 | 15q11.2-13.3 | 20167086 | 32511555 | 12344469 | gain | external link | Marshall, 2008 |
| AutCNV0000148 | 15 | 15q11.2-13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Marshall, 2008 |
| AutCNV0000016 | 15 | 15q11-13 | gain | Weiss, 2008 | ||||
| AutCNV0000181 | 15 | 15q11.2-q13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Marshall, 2008 |
| AutCNV0000305 | 15 | 15q13.2-13.3 | 31115047 | 31617311 | 502264 | gain | external link | Miller, 2009 |
| AutCNV0000304 | 15 | 15q13.2-13.3 | 30931844 | 32861626 | 1929782 | gain | external link | Miller, 2009 |
| AutCNV0000676 | 15 | 15q11-13 | gain | Bremer, 2009 | ||||
| AutCNV0000590 | 15 | 15q13.2-13.3 | 31009003 | 32348522 | 1339519 | gain | external link | Gregory, 2009 |
| AutCNV0000424 | 15 | 15q13.1 | 28999241 | 32414903 | 3415662 | loss | external link | Gregory, 2009 |
| AutCNV0000393 | 15 | 15q13.3 | 30949625 | 32899538 | 1949913 | loss | external link | Pagnamenta, 2009 |
| AutCNV0000844 | 15 | 15q13.1-13.3 | 28963100 | 32648871 | 3685771 | loss | external link | Pinto, 2010 |
| AutCNV0000754 | 15 | 15q13.2-13.3 | 30918248 | 32648871 | 1730623 | loss | external link | Pinto, 2010 |
| AutCNV0004313 | 15 | 15q11.2-q13.3 | 20266957 | 32969479 | 12702522 | gain | external link | Sanders, 2011 |
| AutCNV0004312 | 15 | 15q11.2-q13.3 | 20167086 | 32511555 | 12344469 | gain | external link | Sanders, 2011 |
| AutCNV0004311 | 15 | 15q11.1-q13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Sanders, 2011 |
| AutCNV0003837 | 15 | 15q13.2-q13.3 | 31076701 | 32454043 | 1377342 | gain | external link | Levy, 2011 |
| AutCNV0000717 | 15 | 15q13.2-q13.3 | 30653877 | 32635959 | 1982082 | gain | external link | Bremer, 2011 |
| AutCNV0004320 | 15 | 15q13.2-q13.3 | 30936285 | 32451488 | 1515203 | gain | external link | Sanders, 2011 |
| AutCNV0004319 | 15 | 15q13.2-q13.3 | 30936285 | 32444196 | 1507911 | gain | external link | Sanders, 2011 |
| AutCNV0004318 | 15 | 15q13.2-q13.3 | 30927210 | 32561020 | 1633810 | loss | external link | Sanders, 2011 |
| AutCNV0005649 | 15 | 15 | Krumm N, 2015 | |||||
| AutCNV0005116 | 15 | 15q11.2 | 22769771 | 23096921 | 327150 | gain | external link | Kanduri C, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000155 | 15q13.1-q14 | 15 | rs8033248 | 4.09 | - | - | Allen-Brady, 2010 |