Variant Details for IQGAP2
Basic Information Top
| Gene Symbol: | IQGAP2 ( - ) |
|---|---|
| Gene Full Name: | IQ motif containing GTPase activating protein 2 |
| Band: | 5q13.3 |
| Quick Links | Entrez ID:10788; OMIM: 605401; Uniprot ID:IQGA2_HUMAN; ENSEMBL ID: ENSG00000145703; HGNC ID: 6111 |
| 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 | 2 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003212 | 5 | 5q13.3 | 75842971 | 75913305 | 70334 | loss | external link | Gai, 2011 |
| AutCNV0003211 | 5 | 5q13.3 | 75839350 | 75913784 | 74434 | loss | external link | Gai, 2011 |
| AutCNV0003210 | 5 | 5q13.3 | 75839165 | 75913784 | 74619 | loss | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 75902128 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 5 | 75923263 | G | A | PCR or Sanger sequencing | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 75960968 | G | C | Y | Cukier HN, 2014 |
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! | |||||||