Variant Details for TMC4
Basic Information Top
| Gene Symbol: | TMC4 ( MGC39329 ) |
|---|---|
| Gene Full Name: | transmembrane channel-like 4 |
| Band: | 19q13.42 |
| Quick Links | Entrez ID:147798; OMIM: NA; Uniprot ID:TMC4_HUMAN; ENSEMBL ID: ENSG00000167608; HGNC ID: 22998 |
| 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 | 2 | 2 | 0 | 1 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000381 | 19 | 19q13.42 | 54408188 | 56708188 | 2300000 | external link | Zwaag, 2009 | |
| AutCNV0000380 | 19 | 19q13.42 | 54408188 | 56708188 | 2300000 | external link | Zwaag, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 54672377 | A | R | Sanger sequencing | deleterious | 0.5352 | O'Roak BJ, 2012 | ||
| 19 | 54666461 | G | T | c.1465C>A | p.Leu489Ile | Not_tested | neutral | 0.1176 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 54672377 | A | G | Y | deleterious | 0.8147 | Turner TN, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000142 | 19q13.42 | 19 | D19S572/D19S418 | - | - | 0.00167 | Lauritsen, 2006 |