Variant Details for DYNC1H1
Basic Information Top
| Gene Symbol: | DYNC1H1 ( DHC1,DHC1a,DKFZp686P2245,DNCH1,DNCL,DNECL,DYHC,Dnchc1,HL-3,KIAA0325,p22 ) |
|---|---|
| Gene Full Name: | dynein, cytoplasmic 1, heavy chain 1 |
| Band: | 14q32.31 |
| Quick Links | Entrez ID:1778; OMIM: 600112; Uniprot ID:DYHC1_HUMAN; ENSEMBL ID: ENSG00000197102; HGNC ID: 2961 |
| 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 | 7 | 2 | 0 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004139 | 14 | 14q32.31 | 102492521 | 102539653 | 47132 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 102453029 | G | T | Sanger sequencing | deleterious | 0.7834 | De Rubeis S, 2014 | ||
| 14 | 102478291 | C | T | Sanger sequencing | deleterious | 0.9779 | De Rubeis S, 2014 | ||
| 14 | 102483206 | A | G | Sanger sequencing | deleterious | 0.9779 | De Rubeis S, 2014 | ||
| 14 | 102510723 | A | T | Sanger sequencing | neutral | 0.0913 | De Rubeis S, 2014 | ||
| 14 | 102446851 | C | T | p.Arg309Cys | Sanger | deleterious | 0.9772 | Krumm N, 2015 | |
| 14 | 102460577 | A | G | Sanger sequencing | Yuen RK, 2016 | ||||
| 14 | 102508760 | G | A | Chen R, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 14 | 102510723 | A | T | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
| 14 | 102446851 | C | T | Low-confidence mosaics | Resequencing | Lim ET, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||