Variant Details for TSC1
Basic Information Top
| Gene Symbol: | TSC1 ( KIAA0243,LAM,MGC86987,TSC ) |
|---|---|
| Gene Full Name: | tuberous sclerosis 1 |
| Band: | 9q34 |
| Quick Links | Entrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699; HGNC ID: 12362 |
| 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 | 2 | 4 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000551 | 9 | 9q34.13-34.2 | 135744024 | 136788476 | 1044452 | loss | external link | Gregory, 2009 |
| AutCNV0000550 | 9 | 9q34.13-34.3 | 134558770 | 141153431 | 6594661 | loss | external link | Gregory, 2009 |
| AutCNV0000549 | 9 | 9q34.12-34.2 | 133689525 | 136169833 | 2480308 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 135804244 | T | C | p.N6D | Y | deleterious | 0.7266 | Brett M, 2014 | |
| 9 | 135797313 | G | A | A186T | Toma C, 2014 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Y | Bahl S, 2013 | ||||||||
| 9 | 135786451 | T360N | Y | Bahl S, 2013 | |||||
| 9 | 135782214 | P448S | Y | Bahl S, 2013 | |||||
| 9 | 135800991 | L116V | Y | Bahl S, 2013 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||