Variant Details for SNX19
Basic Information Top
| Gene Symbol: | SNX19 ( CHET8,DKFZp667I205,KIAA0254 ) |
|---|---|
| Gene Full Name: | sorting nexin 19 |
| Band: | 11q24.3-q25 |
| Quick Links | Entrez ID:399979; OMIM: NA; Uniprot ID:SNX19_HUMAN; ENSEMBL ID: ENSG00000120451; HGNC ID: 21532 |
| 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 | 2 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000093 | 11 | 11q23.2-25 | 113996790 | 134897790 | 20901000 | gain | external link | Szatmari, 2007 |
| AutCNV0004297 | 11 | 11q24.2-q25 | 127128729 | 132555164 | 5426435 | loss | external link | Sanders, 2011 |
| AutCNV0005099 | 11 | 11q24.2q25 | loss | Maruani A, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 130775881 | C | T | PCR or Sanger sequencing | neutral | 0.0032 | Iossifov I, 2014 | ||
| 11 | 130753886 | G | A | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||