Variant Details for LRRTM4
Basic Information Top
| Gene Symbol: | LRRTM4 ( FLJ12568,MGC120633,MGC120636 ) |
|---|---|
| Gene Full Name: | leucine rich repeat transmembrane neuronal 4 |
| Band: | 2p12 |
| Quick Links | Entrez ID:80059; OMIM: 610870; Uniprot ID:LRRT4_HUMAN; ENSEMBL ID: ENSG00000176204; HGNC ID: 19411 |
| 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 | 1 | 0 | 1 | 0 | 2 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000469 | 2 | 2p12 | 76711137 | 77074840 | 363703 | gain | external link | Gregory, 2009 |
| AutCNV0003080 | 2 | 2p12 | 76927056 | 77012017 | 84961 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 77624540 | T | G | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 76783069 | A | G | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000017 | 2p12 | 2 | D2S1351 | 2.14 | - | - | Bailey, 1998 |
| AutLD0000029 | 2p12 | 2 | D2S1351 | 1.6 | - | - | Monaco, 2001 |