Variant Details for TSC2
Basic Information Top
| Gene Symbol: | TSC2 ( FLJ43106,LAM,TSC4 ) |
|---|---|
| Gene Full Name: | tuberous sclerosis 2 |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:7249; OMIM: 191092; Uniprot ID:TSC2_HUMAN; ENSEMBL ID: ENSG00000103197; HGNC ID: 12363 |
| 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 | 6 | 7 | 0 | 43 | 11 | 2 | 69 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004679 | 16 | 16p13.3 | 2088391 | 2415016 | 326625 | gain | external link | Gazzellone MJ, 2014 |