Variant Details for CLSTN2
Basic Information Top
| Gene Symbol: | CLSTN2 ( ALC-GAMMA,CDHR13,CS2,CSTN2,FLJ39113,FLJ39499,MGC119560,alcagamma ) |
|---|---|
| Gene Full Name: | calsyntenin 2 |
| Band: | 3q23 |
| Quick Links | Entrez ID:64084; OMIM: 611323; Uniprot ID:CSTN2_HUMAN; ENSEMBL ID: ENSG00000158258; HGNC ID: 17448 |
| 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 | 3 | 0 | 0 | 2 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000352 | 3 | 3q23 | 138917310 | 142917310 | 4000000 | external link | Zwaag, 2009 | |
| AutCNV0000852 | 3 | 3q23 | 140014763 | 140185294 | 170531 | gain | external link | Pinto, 2010 |
| AutCNV0003529 | 3 | 3q23 | 139984870 | 140180563 | 195693 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 139493652 | G | T | Doan RN, 2016 | |||||
| 3 | 140103216 | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||