Variant Details for DNAH2
Basic Information Top
| Gene Symbol: | DNAH2 ( DNAHC2,DNHD3,FLJ46675,KIAA1503 ) |
|---|---|
| Gene Full Name: | dynein, axonemal, heavy chain 2 |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:146754; OMIM: 603333; Uniprot ID:DYH2_HUMAN; ENSEMBL ID: ENSG00000183914; HGNC ID: 2948 |
| 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 | 0 | 6 | 0 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 7660448 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 17 | 7671509 | A | T | Sanger sequencing | neutral | 0.0061 | De Rubeis S, 2014 | ||
| 17 | 7664160 | G | A | PCR or Sanger sequencing | neutral | 0.012 | Iossifov I, 2014 | ||
| 17 | 7720741 | G | A | strong | Iossifov I, 2014 | ||||
| 17 | 7699902 | G | A | Sanger sequencing | neutral | 0.0658 | Yuen RK, 2016 | ||
| 17 | 7627294 | A | G | Sequenom | Michaelson JJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000082 | 17p13.1 | 17 | D17S513 | 1.13 | - | - | Lamb, 2005 |