Variant Details for DNAH10
Basic Information Top
| Gene Symbol: | DNAH10 ( FLJ38262,FLJ43486,FLJ43808,KIAA2017 ) |
|---|---|
| Gene Full Name: | dynein, axonemal, heavy chain 10 |
| Band: | 12q24.31 |
| Quick Links | Entrez ID:196385; OMIM: 605884; Uniprot ID:DYH10_HUMAN; ENSEMBL ID: ENSG00000197653; HGNC ID: 2941 |
| 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 | 4 | 3 | 1 | 3 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
| AutCNV0000146 | 12 | 12q24.21-24.33 | 115707280 | 133777650 | 18070370 | gain | external link | Marshall, 2008 |
| AutCNV0002035 | 12 | 12q24.31-24.32 | 124064918 | 127061178 | 2996260 | gain | external link | Pinto, 2010 |
| AutCNV0004303 | 12 | 12q24.21-q24.33 | 115685617 | 133779461 | 18093844 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 124303750 | G | A | p.Arg1200His | Sanger | neutral | 0.0825 | Krumm N, 2015 | |
| 12 | 124383277 | C | A | p.L3068M | Y | Yuen RK, 2015 | |||
| 12 | 124413069 | C | T | p.R3963C | Y | Yuen RK, 2015 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 12 | 124303750 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| chr12 | 124333343 | C | T | p.R1888X | Y | Yuen RK, 2015 | |||
| 12 | 124401027 | C | A | Y | Cukier HN, 2014 | ||||
| 12 | 124356105 | G | T | Y | Cukier HN, 2014 |
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! | |||||||