Variant Details for DOM3Z
Basic Information Top
| Gene Symbol: | DOM3Z ( DOM3L,NG6 ) |
|---|---|
| Gene Full Name: | dom-3 homolog Z (C. elegans) |
| Band: | 6p21.3 |
| Quick Links | Entrez ID:1797; OMIM: 605996; Uniprot ID:DOM3Z_HUMAN; ENSEMBL ID: ENSG00000204348; HGNC ID: |
| 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 | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000488 | 6 | 6p21.32-21.33 | 31405443 | 32199000 | 793557 | gain | external link | Gregory, 2009 |
| AutCNV0000491 | 6 | 6p21.32 | 31815721 | 32199000 | 383279 | loss | external link | Gregory, 2009 |
| AutCNV0000490 | 6 | 6p21.32-21.33 | 31477607 | 32122919 | 645312 | gain | external link | Gregory, 2009 |
| AutCNV0000489 | 6 | 6p21.32-21.33 | 31477607 | 32199000 | 721393 | gain | external link | Gregory, 2009 |
| AutCNV0000699 | 6 | 6p21 | 29792021 | 45092022 | 15300001 | gain | external link | Berkel, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 31938187 | C | T | c.881G>A | p.Arg294His | Sanger sequencing | deleterious | 0.8336 | Sanders SJ, 2012 |
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! | |||||||