Variant Details for GOLGA3
Basic Information Top
| Gene Symbol: | GOLGA3 ( GCP170,MEA-2 ) |
|---|---|
| Gene Full Name: | golgin A3 |
| Band: | 12q24.33 |
| Quick Links | Entrez ID:2802; OMIM: 602581; Uniprot ID:GOGA3_HUMAN; ENSEMBL ID: ENSG00000090615; HGNC ID: 4426 |
| 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 | 1 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000146 | 12 | 12q24.21-24.33 | 115707280 | 133777650 | 18070370 | gain | external link | Marshall, 2008 |
| AutCNV0000366 | 12 | 12q24.33 | 130134047 | 133779461 | 3645414 | external link | Zwaag, 2009 | |
| AutCNV0000365 | 12 | 12q24.33 | 130134047 | 133779461 | 3645414 | external link | Zwaag, 2009 | |
| AutCNV0004303 | 12 | 12q24.21-q24.33 | 115685617 | 133779461 | 18093844 | gain | external link | Sanders, 2011 |
| AutCNV0005664 | 12 | 12 | Krumm N, 2015 | |||||
| AutCNV0005661 | 12 | 12 | Krumm N, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 133381371 | C | S | c.1528G>C | p.Glu510Gln | Sanger sequencing | neutral | 0.3708 | Sanders SJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 12 | 133381371 | C | G | Low-confidence mosaics | Resequencing | Lim ET, 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! | |||||||