Variant Details for SMARCA4
Basic Information Top
| Gene Symbol: | SMARCA4 ( BAF190,BRG1,FLJ39786,RTPS2,SNF2,SNF2-BETA,SNF2L4,SNF2LB,SWI2,hSNF2b ) |
|---|---|
| Gene Full Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
| Band: | 19p13.2 |
| Quick Links | Entrez ID:6597; OMIM: 603254; Uniprot ID:SMCA4_HUMAN; ENSEMBL ID: ENSG00000127616; HGNC ID: 11100 |
| 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 | 1 | 2 | 1 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004927 | 16 | 29567296 | 30321320 | 754024 | loss | external link | Tammimies K, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 11096052 | C | T | Sanger sequencing | neutral | 0.1163 | De Rubeis S, 2014 | ||
| 19 | 11097060 | T | C | Sanger sequencing | deleterious | 0.5145 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 19 | 11096936 | C | G | High-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! | |||||||