Variant Details for TBC1D5
Basic Information Top
| Gene Symbol: | TBC1D5 ( KIAA0210 ) |
|---|---|
| Gene Full Name: | TBC1 domain family, member 5 |
| Band: | 3p24.3 |
| Quick Links | Entrez ID:9779; OMIM: NA; Uniprot ID:TBCD5_HUMAN; ENSEMBL ID: ENSG00000131374; HGNC ID: 19166 |
| 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 | 0 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000351 | 3 | 3p24.3 | 14724996 | 23824996 | 9100000 | external link | Zwaag, 2009 | |
| AutCNV0002428 | 3 | 3p24.3 | 17394615 | 17486643 | 92028 | loss | external link | Pinto, 2010 |
| AutCNV0001651 | 3 | 3p24.3 | 17394615 | 17486643 | 92028 | loss | external link | Pinto, 2010 |
| AutCNV0001204 | 3 | 3p24.3 | 17519053 | 17567220 | 48167 | loss | external link | Pinto, 2010 |
| AutCNV0004464 | 3 | 3p24.3 | 17464357 | 17504734 | 40377 | loss | external link | Nord, 2011 |
| AutCNV0005817 | 3 | 3p24.3 | 17655221 | 17758388 | 103167 | loss | external link | Egger G, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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! | |||||||