Variant Details for D2HGDH
Basic Information Top
| Gene Symbol: | D2HGDH ( D2HGD,FLJ42195,MGC25181 ) |
|---|---|
| Gene Full Name: | D-2-hydroxyglutarate dehydrogenase |
| Band: | 2q37.3 |
| Quick Links | Entrez ID:728294; OMIM: 609186; Uniprot ID:D2HDH_HUMAN; ENSEMBL ID: ENSG00000180902; HGNC ID: 28358 |
| 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 | 4 | 1 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000003 | 2 | 2q37.3 | 238435066 | 242985351 | 4550285 | loss | external link | Sebat, 2007 |
| AutCNV0000002 | 2 | 2q37.2-q37.3 | 236632455 | 242985351 | 6352896 | loss | external link | Sebat, 2007 |
| AutCNV0004214 | 2 | 2q37.3 | 238552327 | 243052430 | 4500103 | loss | external link | Sanders, 2011 |
| AutCNV0004213 | 2 | 2q37.2-q37.3 | 236749716 | 243052430 | 6302714 | loss | external link | Sanders, 2011 |
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 | 242694601 | G | C | Sanger sequencing | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|