Variant Details for DNM2
![](img/hide.gif)
![](img/arrow-up.png)
Gene Symbol: | DNM2 ( CMT2M,CMTDI1,CMTDIB,DI-CMTB,DYN2,DYNII ) |
---|---|
Gene Full Name: | dynamin 2 |
Band: | 19p13.2 |
Quick Links | Entrez ID:1785; OMIM: 602378; Uniprot ID:DYN2_HUMAN; ENSEMBL ID: ENSG00000079805; HGNC ID: 2974 |
Relate to Another Database: | SFARIGene; denovo-db |
![](img/hide.gif)
![](img/arrow-up.png)
Click 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 | 0 | 0 | 1 | 0 | 0 | 2 |
![](img/hide.gif)
![](img/arrow-up.png)
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0004012 | 19 | 19p13.2 | 10805662 | 10843420 | 37758 | gain | external link | Levy, 2011 |
![](img/show.gif)
![](img/arrow-up.png)
iFish (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! |
![](img/show.gif)
![](img/arrow-up.png)
Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
No related data! |
![](img/hide.gif)
![](img/arrow-up.png)
Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
19 | 10906796 | A | C | K419T | Toma C, 2014 |
![](img/show.gif)
![](img/arrow-up.png)
Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |
![](img/show.gif)
![](img/arrow-up.png)
Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |