Variant Details for SMARCC2
Basic Information Top
| Gene Symbol: | SMARCC2 ( BAF170,CRACC2,DKFZp313D0632,Rsc8 ) |
|---|---|
| Gene Full Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 |
| Band: | 12q13.2 |
| Quick Links | Entrez ID:6601; OMIM: 601734; Uniprot ID:SMRC2_HUMAN; ENSEMBL ID: ENSG00000139613; HGNC ID: 11105 |
| 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 | 4 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
| AutCNV0000823 | 12 | 12q13.2-14.1 | 55932655 | 60493348 | 4560693 | gain | external link | Pinto, 2010 |
| AutCNV0004301 | 12 | 12q13.2-q14.1 | 55932655 | 60493348 | 4560693 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 56566368 | C | A | c.1863+1 | Sanger sequencing | Neale BM, 2012 | |||
| 12 | 56566368 | C | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 12 | 56567574 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 12 | 56567574 | G | A | HiSeq X and Sanger | C Yuen RK, 2017 |
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! | |||||||