Variant Details for GRM7
Basic Information Top
| Gene Symbol: | GRM7 ( FLJ40498,GLUR7,GPRC1G,MGLU7,MGLUR7 ) |
|---|---|
| Gene Full Name: | glutamate receptor, metabotropic 7 |
| Band: | 3p26.1 |
| Quick Links | Entrez ID:2917; OMIM: 604101; Uniprot ID:GRM7_HUMAN; ENSEMBL ID: ENSG00000196277; HGNC ID: 4599 |
| 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 | 6 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002425 | 3 | 3p26.1 | 7204286 | 7330517 | 126231 | loss | external link | Pinto, 2010 |
| AutCNV0003167 | 3 | 3p26.1 | 7090422 | 7197715 | 107293 | loss | external link | Gai, 2011 |
| AutCNV0003166 | 3 | 3p26.1 | 7089629 | 7197715 | 108086 | loss | external link | Gai, 2011 |
| AutCNV0003165 | 3 | 3p26.1 | 7078179 | 7169453 | 91274 | loss | external link | Gai, 2011 |
| AutCNV0000729 | 3 | 3p25.3-pter | 60000 | 10093676 | 10033676 | gain | external link | Bremer, 2011 |
| AutCNV0005013 | 3 | 3p26.1 | 7221090 | 7524552 | 303462 | loss | external link | Liu Y, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 7620458 | G | A | c.1865G>A | p.Arg622Gln | Sanger sequencing | deleterious | 0.9921 | Sanders SJ, 2012 |
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! | |||||||