Variant Details for DNAH7
Basic Information Top
| Gene Symbol: | DNAH7 ( DKFZp686C09101,FLJ37196,KIAA0944,MGC39580 ) |
|---|---|
| Gene Full Name: | dynein, axonemal, heavy chain 7 |
| Band: | 2q32.3 |
| Quick Links | Entrez ID:56171; OMIM: 610061; Uniprot ID:DYH7_HUMAN; ENSEMBL ID: ENSG00000118997; HGNC ID: 18661 |
| 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 | 4 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000261 | 2 | 2q32.1-32.3 | 182991755 | 197391755 | 14400000 | loss | external link | Gallagher, 2003 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 196640603 | A | C | c.11169T>G | p.Thr3723Thr | Sanger sequencing | Neale BM, 2012 | ||
| 2 | 196640603 | A | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 2 | 196729541 | C | A | Sanger sequencing | neutral | 0.0296 | De Rubeis S, 2014 | ||
| 2 | 196891487 | T | C | c.664A>G | p.Ile222Val | Not_tested | neutral | 0.0419 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||