Variant Details for MTOR
Basic Information Top
| Gene Symbol: | MTOR ( FLJ44809,FRAP,FRAP1,FRAP2,RAFT1,RAPT1 ) |
|---|---|
| Gene Full Name: | mechanistic target of rapamycin (serine/threonine kinase) |
| Band: | 1p36.22 |
| Quick Links | Entrez ID:2475; OMIM: 601231; Uniprot ID:MTOR_HUMAN; ENSEMBL ID: ENSG00000198793; HGNC ID: 3942 |
| 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 | 0 | 2 | 1 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 11316137 | C | T | c.617G>A | p.Arg206His | Not_tested | deleterious | 0.9882 | Takata A, 2018 |
| 0 | c.4785G>A | p.Met1595Ile | Bowling KM, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 11190804 | C | T | gonadal mosaic | Mroske C, 2015 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| c.505-2A>G | Bowling KM, 2017 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||