Variant Details for TMEM132D
Basic Information Top
| Gene Symbol: | TMEM132D ( KIAA1944,MGC138770,MGC138771,MOLT ) |
|---|---|
| Gene Full Name: | transmembrane protein 132D |
| Band: | 12q24.33 |
| Quick Links | Entrez ID:121256; OMIM: 611257; Uniprot ID:T132D_HUMAN; ENSEMBL ID: ENSG00000151952; HGNC ID: 29411 |
| 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 | 10 | 2 | 0 | 0 | 0 | 1 | 13 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000103 | 12 | 12q24.33 | 130095120 | 130474120 | 379000 | gain | external link | Szatmari, 2007 |
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
| AutCNV0000146 | 12 | 12q24.21-24.33 | 115707280 | 133777650 | 18070370 | gain | external link | Marshall, 2008 |
| AutCNV0000366 | 12 | 12q24.33 | 130134047 | 133779461 | 3645414 | external link | Zwaag, 2009 | |
| AutCNV0000365 | 12 | 12q24.33 | 130134047 | 133779461 | 3645414 | external link | Zwaag, 2009 | |
| AutCNV0002037 | 12 | 12q24.32 | 129302255 | 129637348 | 335093 | gain | external link | Pinto, 2010 |
| AutCNV0004303 | 12 | 12q24.21-q24.33 | 115685617 | 133779461 | 18093844 | gain | external link | Sanders, 2011 |
| AutCNV0004132 | 12 | 12q24.32 | 129936172 | 130057494 | 121322 | gain | external link | Levy, 2011 |
| AutCNV0003682 | 12 | 12q24.33 | 130255153 | 130295647 | 40494 | loss | external link | Gai, 2011 |
| AutCNV0003681 | 12 | 12q24.33 | 130255153 | 130291700 | 36547 | loss | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 129581773 | C | T | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 12 | 129763345 | C | T | Sanger and Sequenom | Michaelson JJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000042 | 12q24.32 | 12 | D12S2078 | 1.02 | - | - | Auranen, 2002 |