Variant Details for NAV1
Basic Information Top
| Gene Symbol: | NAV1 ( DKFZp781D0314,FLJ12560,FLJ14203,KIAA1151,MGC14961,POMFIL3,STEERIN1,UNC53H1 ) |
|---|---|
| Gene Full Name: | neuron navigator 1 |
| Band: | 1q32.1 |
| Quick Links | Entrez ID:89796; OMIM: 611628; Uniprot ID:NAV1_HUMAN; ENSEMBL ID: ENSG00000134369; HGNC ID: 15989 |
| 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 | 0 | 3 | 0 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 201687561 | C | A | c.904C>A | p.Arg302Ser | Sanger sequencing | deleterious | 0.8286 | Jiang YH, 2013 |
| 1 | 201687561 | C | A | Sanger sequencing | deleterious | 0.8286 | Yuen RK, 2016 | ||
| 1 | 201687561 | c.C904A | deleterious | 0.8286 | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| A912V | Novarino G, 2012 |
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! | |||||||