Variant Details for CHMP2A
Basic Information Top
| Gene Symbol: | CHMP2A ( BC-2,BC2,CHMP2,VPS2,VPS2A ) |
|---|---|
| Gene Full Name: | chromatin modifying protein 2A |
| Band: | 19q13.43 |
| Quick Links | Entrez ID:27243; OMIM: 610893; Uniprot ID:CHM2A_HUMAN; ENSEMBL ID: ENSG00000130724; HGNC ID: 30216 |
| 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 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002180 | 19 | 19q13.43 | 59060766 | 59110628 | 49862 | gain | external link | Pinto, 2010 |
| AutCNV0001465 | 19 | 19q13.43 | 58927215 | 59110628 | 183413 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 59063080 | G | C | Sanger sequencing | neutral | 0.1403 | De Rubeis S, 2014 | ||
| 19 | 59063080 | G | C | c.605GCC>GGC | p.202A>G | neutral | 0.1403 | Fromer M, 2014 |
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! | |||||||