Variant Details for NAV2
Basic Information Top
| Gene Symbol: | NAV2 ( FLJ10633,FLJ11030,FLJ23707,FLJ77876,HELAD1,KIAA1419,POMFIL2,RAINB1,STEERIN2,UNC53H2 ) |
|---|---|
| Gene Full Name: | neuron navigator 2 |
| Band: | 11p15.1 |
| Quick Links | Entrez ID:89797; OMIM: 607026; Uniprot ID:NAV2_HUMAN; ENSEMBL ID: ENSG00000166833; HGNC ID: 15997 |
| 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 | 3 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005668 | 11 | 11 | Krumm N, 2015 | |||||
| AutCNV0005642 | 11 | 11 | Krumm N, 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 | 20139742 | G | A | c.7228G>A | p.Asp2410N | Sanger sequencing | deleterious | 0.558 | Sanders SJ, 2012 |
| 11 | 20119143 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 11 | 20117286 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 |
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! | |||||||