Variant Details for SMARCA2
Basic Information Top
| Gene Symbol: | SMARCA2 ( BAF190,BRM,FLJ36757,MGC74511,SNF2,SNF2L2,SNF2LA,SWI2,Sth1p,hBRM,hSNF2a ) |
|---|---|
| Gene Full Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
| Band: | 9p24.3 |
| Quick Links | Entrez ID:6595; OMIM: 600014; Uniprot ID:SMCA2_HUMAN; ENSEMBL ID: ENSG00000080503; HGNC ID: 11098 |
| 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 | 5 | 1 | 1 | 1 | 0 | 1 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000084 | 9 | 9p13.3-24.3 | 249391 | 33926500 | 33677109 | gain | external link | Szatmari, 2007 |
| AutCNV0000820 | 9 | 9p24.2-24.3 | 108998 | 3692923 | 3583925 | loss | external link | Pinto, 2010 |
| AutCNV0003818 | 9 | 9p24.3-p24.2 | 202721 | 3386926 | 3184205 | gain | external link | Levy, 2011 |
| AutCNV0004282 | 9 | 9p24.2-p24.3 | 185632 | 3383495 | 3197863 | gain | external link | Sanders, 2011 |
| AutCNV0004281 | 9 | 9p24.2-p24.3 | 108998 | 3692923 | 3583925 | loss | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 0 | p.Arg525 | Geisheker MR, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 9 | 2076312 | T | A | Parental Mosaic Transmitted | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 2050946 | T | C | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000146 | 9p24.3 | 9 | - | - | 3.44 | - | Allen-Brady, 2008 |