Variant Details for GPHN
Basic Information Top
| Gene Symbol: | GPHN ( GEPH,GPH,GPHRYN,KIAA1385 ) |
|---|---|
| Gene Full Name: | gephyrin |
| Band: | 14q23.3 |
| Quick Links | Entrez ID:10243; OMIM: 603930; Uniprot ID:GEPH_HUMAN; ENSEMBL ID: ENSG00000171723; HGNC ID: 15465 |
| 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 | 0 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001326 | 14 | 14q23.3 | 67046560 | 67144588 | 98028 | loss | external link | Pinto, 2010 |
| AutCNV0001137 | 14 | 14q23.3 | 67046560 | 67124785 | 78225 | loss | external link | Pinto, 2010 |
| AutCNV0005845 | 14 | 14q23.3 | 66274499 | 66631750 | 357251 | loss | external link | Egger G, 2014 |
| AutCNV0005039 | 14 | 14q23.3 | 67105512 | 67543291 | 437779 | loss | external link | Hu J, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||