Variant Details for GRIA2
Basic Information Top
| Gene Symbol: | GRIA2 ( GLUR2,GLURB,GluA2,GluR-K2,HBGR2 ) |
|---|---|
| Gene Full Name: | glutamate receptor, ionotropic, AMPA 2 |
| Band: | 4q32.1 |
| Quick Links | Entrez ID:2891; OMIM: 138247; Uniprot ID:GRIA2_HUMAN; ENSEMBL ID: ENSG00000120251; HGNC ID: 4572 |
| 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 | 2 | 1 | 0 | 1 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000254 | 4 | 4q31.3-33 | 158017355 | 176452760 | 18435405 | loss | external link | Ramanathan, 2004 |
| AutCNV0004239 | 4 | 4q32.1 | 158270728 | 158987855 | 717127 | gain | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 158234012 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 4 | 158254055 | C | T | Sanger sequencing | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 4 | 158262484 | C | T | mosaic | PASM | Dou Y, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Ramanathan, 2004 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||