Variant Details for LOC642852
Basic Information Top
| Gene Symbol: | LOC642852 ( DKFZp547J125,FLJ31604,FLJ34903 ) |
|---|---|
| Gene Full Name: | - |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:642852; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000134 | 21 | 21q22 | 39154938 | 47152380 | 7997442 | loss | external link | Jacquemont, 2006 |
| AutCNV0002212 | 21 | 21q22.3 | 46713092 | 46924785 | 211693 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 21 | 46714226 | C | T | strong | Iossifov I, 2014 | ||||
| 21 | 46714389 | G | T | Sanger sequencing | Yuen RK, 2016 | ||||
| 21 | 46714390 | A | T | Sanger sequencing | Yuen RK, 2016 |
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! | |||||||