Variant Details for GABRG2
Basic Information Top
| Gene Symbol: | GABRG2 ( CAE2,ECA2,GEFSP3 ) |
|---|---|
| Gene Full Name: | gamma-aminobutyric acid (GABA) A receptor, gamma 2 |
| Band: | 5q34 |
| Quick Links | Entrez ID:2566; OMIM: 137164; Uniprot ID:GBRG2_HUMAN; ENSEMBL ID: ENSG00000113327; HGNC ID: 4087 |
| 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 | 0 | 2 | 2 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 161576159 | G | A | Sanger sequencing | deleterious | 0.8666 | De Rubeis S, 2014 | ||
| 5 | 161522557 | G | A | c.316G>A | p.Ala106Thr | Not_tested | deleterious | 0.7671 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 5 | 161522685 | G | A | mosaic | PASM | Dou Y, 2017 |
| 5 | 161524765 | C | T | Parental Mosaic Transmitted | Krupp DR, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||