Variant Details for SLC2A4RG
Basic Information Top
| Gene Symbol: | SLC2A4RG ( GEF,HDBP1,Si-1-2,Si-1-2-19 ) |
|---|---|
| Gene Full Name: | SLC2A4 regulator |
| Band: | 20q13.33 |
| Quick Links | Entrez ID:56731; OMIM: 609493; Uniprot ID:S2A4R_HUMAN; ENSEMBL ID: ENSG00000125520; HGNC ID: 15930 |
| 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 | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000155 | 20 | 20q13.33 | 61478894 | 62906556 | 1427662 | gain | external link | Marshall, 2008 |
| AutCNV0000696 | 20 | 20q13.33 | 58466605 | 62965520 | 4498915 | loss | external link | Berkel, 2010 |
| AutCNV0004382 | 20 | 20q13.33 | 61478894 | 62906556 | 1427662 | gain | external link | Sanders, 2011 |
| AutCNV0004920 | X | gain | Tammimies K, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 62373543 | G | A | c.640G>A | p.Ala214Thr | Not_tested | neutral | 0.3243 | Takata A, 2018 |
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! | |||||||