Variant Details for DDX42
Basic Information Top
| Gene Symbol: | DDX42 ( FLJ43179,RHELP,RNAHP,SF3b125 ) |
|---|---|
| Gene Full Name: | DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 |
| Band: | 17q23.3 |
| Quick Links | Entrez ID:11325; OMIM: 613369; Uniprot ID:DDX42_HUMAN; ENSEMBL ID: ENSG00000198231; HGNC ID: 18676 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000276 | 17 | 17q23 | 57545218 | 62469538 | 4924320 | gain | external link | Wassink, 2001 |
| AutCNV0004157 | 17 | 17q23.3 | 61410337 | 62319845 | 909508 | gain | external link | Levy, 2011 |