Variant Details for DNAH11
Basic Information Top
| Gene Symbol: | DNAH11 ( CILD7,DNAHBL,DNAHC11,DNHBL,DPL11,FLJ30095,FLJ37699 ) |
|---|---|
| Gene Full Name: | dynein, axonemal, heavy chain 11 |
| Band: | 7p15.3 |
| Quick Links | Entrez ID:8701; OMIM: 603339; Uniprot ID:DYH11_HUMAN; ENSEMBL ID: ENSG00000105877; HGNC ID: 2942 |
| 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 | 3 | 0 | 0 | 0 | 0 | 3 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 21737764 | A | G | p.Asp2045G | Sanger sequencing | deleterious | 0.5422 | Sanders SJ, 2012 | |
| 7 | 21747364 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 7 | 21765433 | C | G | Sanger sequencing | neutral | 0.3026 | De Rubeis S, 2014 |
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! | |||||||