Variant Details for DSCAM
Basic Information Top
| Gene Symbol: | DSCAM ( CHD2-42,CHD2-52 ) |
|---|---|
| Gene Full Name: | Down syndrome cell adhesion molecule |
| Band: | 21q22.2 |
| Quick Links | Entrez ID:1826; OMIM: 602523; Uniprot ID:DSCAM_HUMAN; ENSEMBL ID: ENSG00000171587; HGNC ID: 3039 |
| 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 | 2 | 8 | 2 | 18 | 0 | 0 | 30 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000134 | 21 | 21q22 | 39154938 | 47152380 | 7997442 | loss | external link | Jacquemont, 2006 |