Variant Details for SLIT3
Basic Information Top
| Gene Symbol: | SLIT3 ( FLJ10764,MEGF5,SLIL2,SLIT1,Slit-3,slit2 ) |
|---|---|
| Gene Full Name: | slit homolog 3 (Drosophila) |
| Band: | 5q34-q35.1 |
| Quick Links | Entrez ID:6586; OMIM: 603745; Uniprot ID:SLIT3_HUMAN; ENSEMBL ID: ENSG00000184347; HGNC ID: 11087 |
| 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 | 4 | 1 | 2 | 0 | 0 | 7 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 168175351 | C | A | c.2226G>T | p.Gly742Gly | Sanger sequencing | Jiang YH, 2013 | ||
| 5 | 168112800 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 5 | 168175351 | C | A | Sanger sequencing | Yuen RK, 2016 | ||||
| 5 | 168175351 | c.G2226T | Jiang YH, 2013 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 5 | 168678421 | G | A | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 168250305 | C | G | c.589C>G | p.Leu197Val | Bi C, 2012 | |||
| 5 | 168180047 | C | T | Y | Cukier HN, 2014 |
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! | |||||||