Variant Details for GNA12
Basic Information Top
| Gene Symbol: | GNA12 ( MGC104623,MGC99644,NNX3,RMP,gep ) |
|---|---|
| Gene Full Name: | guanine nucleotide binding protein (G protein) alpha 12 |
| Band: | 7p22.3-p22.2 |
| Quick Links | Entrez ID:2768; OMIM: 604394; Uniprot ID:GNA12_HUMAN; ENSEMBL ID: ENSG00000146535; HGNC ID: 4380 |
| 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 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000249 | 7 | 7p22.2-22.1 | 2133474 | 7233475 | 5100001 | loss | external link | Yu, 2002 |
| AutCNV0002629 | 7 | 7p22.2 | 2789704 | 2831083 | 41379 | gain | external link | Pinto, 2010 |
| AutCNV0003240 | 7 | 7p22.2 | 2652630 | 3053209 | 400579 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||