Variant Details for RAC1
Basic Information Top
Gene Symbol: | RAC1 ( MGC111543,TC-25,p21-Rac1 ) |
---|---|
Gene Full Name: | ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) |
Band: | 7p22.1 |
Quick Links | Entrez ID:5879; OMIM: 602048; Uniprot ID:RAC1_HUMAN; ENSEMBL ID: ENSG00000136238; HGNC ID: 9801 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 0 | 0 | 0 | 1 | 0 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000249 | 7 | 7p22.2-22.1 | 2133474 | 7233475 | 5100001 | loss | external link | Yu, 2002 |
AutCNV0000730 | 7 | 7p22.1 | 5133474 | 6533475 | 1400001 | gain | external link | Bremer, 2011 |
AutCNV0004828 | 7 | 7p22.1 | gain | Goitia V, 2015 |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
No related data! |
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 |
---|---|---|---|---|---|---|---|---|---|
Fatemi SH, 2013 |
Linkage Regions Top
Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |