Variant Details for CHD8
Basic Information Top
| Gene Symbol: | CHD8 ( DKFZp686N17164,HELSNF1,KIAA1564 ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 8 |
| Band: | 14q11.2 |
| Quick Links | Entrez ID:57680; OMIM: 610528; Uniprot ID:CHD8_HUMAN; ENSEMBL ID: ENSG00000100888; HGNC ID: 20153 |
| 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 | 49 | 0 | 17 | 1 | 0 | 72 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004890 | 14 | 14q11.2 | 21823852 | 21937621 | 113769 | loss | external link | Prontera P, 2014 |
| AutCNV0005159 | 16 | 16p13.11 | 15048751 | 16305736 | 1256985 | gain | external link | Pinto AM, 2015 |
| AutCNV0004985 | 14 | 14q11.2 | 21751147 | 21945416 | 194269 | loss | external link | Drabova J, 2015 |
| AutCNV0005124 | 3 | 3q29 | 193046853 | 194407385 | 1360532 | loss | external link | Biamino E, 2016 |