Variant Details for GPC6
Basic Information Top
| Gene Symbol: | GPC6 ( MGC126288,OMIMD1 ) |
|---|---|
| Gene Full Name: | glypican 6 |
| Band: | 13q31.3-q32.1 |
| Quick Links | Entrez ID:10082; OMIM: 604404; Uniprot ID:GPC6_HUMAN; ENSEMBL ID: ENSG00000183098; HGNC ID: 4454 |
| 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 | 3 | 0 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002829 | 13 | 13q32.1 | 95011025 | 95148378 | 137353 | gain | external link | Pinto, 2010 |
| AutCNV0002828 | 13 | 13q31.3 | 94568278 | 94663050 | 94772 | loss | external link | Pinto, 2010 |
| AutCNV0001129 | 13 | 13q31.3 | 94789744 | 94916602 | 126858 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000024 | 13q32.1 | 13 | D13S193 | 1.52 | - | - | Bailey, 1998 |