Variant Details for DTNA
Basic Information Top
| Gene Symbol: | DTNA ( D18S892E,DRP3,DTN,DTN-A,FLJ96209,LVNC1 ) |
|---|---|
| Gene Full Name: | dystrobrevin, alpha |
| Band: | 18q12.1 |
| Quick Links | Entrez ID:1837; OMIM: 601239; Uniprot ID:DTNA_HUMAN; ENSEMBL ID: ENSG00000134769; HGNC ID: 3057 |
| 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 | 2 | 0 | 0 | 0 | 0 | 1 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000303 | 18 | 18q12 | 31943002 | 35138002 | 3195000 | loss | external link | Gilling, 2008 |
| AutCNV0004666 | 18 | 18q12.1 | 28333702 | 32395282 | 4061580 | gain | external link | Wang P, 2013 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000141 | 18q12.1-21.1 | 18 | D18S536/D18S970 | - | - | 0.0022 | Lauritsen, 2006 |