Variant Details for DDHD2
Basic Information Top
| Gene Symbol: | DDHD2 ( KIAA0725,SAMWD1 ) |
|---|---|
| Gene Full Name: | DDHD domain containing 2 |
| Band: | 8p11.23 |
| Quick Links | Entrez ID:23259; OMIM: NA; Uniprot ID:DDHD2_HUMAN; ENSEMBL ID: ENSG00000085788; HGNC ID: 29106 |
| 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 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000527 | 8 | 8p11.23-12 | 38034691 | 38567073 | 532382 | gain | external link | Gregory, 2009 |
| AutCNV0002693 | 8 | 8p12 | 38057330 | 38166056 | 108726 | gain | external link | Pinto, 2010 |
| AutCNV0003944 | 8 | 8p12 | 38085175 | 38121093 | 35918 | loss | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||