Variant Details for GRIK5
Basic Information Top
| Gene Symbol: | GRIK5 ( EAA2,GRIK2,KA2 ) |
|---|---|
| Gene Full Name: | glutamate receptor, ionotropic, kainate 5 |
| Band: | 19q13.2 |
| Quick Links | Entrez ID:2901; OMIM: 600283; Uniprot ID:GRIK5_HUMAN; ENSEMBL ID: ENSG00000105737; HGNC ID: 4583 |
| 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 | 5 | 3 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000379 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0000378 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0000377 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0000376 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0004761 | 9 | gain | Lionel AC, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 42563657 | C | A | c.531G>T | p.Leu177Leu | Sanger sequencing | Sanders SJ, 2012 | ||
| 19 | 42507510 | T | C | Sanger sequencing | neutral | 0.2698 | De Rubeis S, 2014 | ||
| 19 | 42546852 | C | T | p.Arg442His | Sanger | neutral | 0.3877 | Krumm N, 2015 |
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! | |||||||