Variant Details for KCNB2
Basic Information Top
| Gene Symbol: | KCNB2 ( KV2.2 ) |
|---|---|
| Gene Full Name: | potassium voltage-gated channel, Shab-related subfamily, member 2 |
| Band: | 8q21.11 |
| Quick Links | Entrez ID:9312; OMIM: 607738; Uniprot ID:KCNB2_HUMAN; ENSEMBL ID: ENSG00000182674; HGNC ID: 6232 |
| 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 | 0 | 0 | 2 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002700 | 8 | 8q13.3 | 73600775 | 73642781 | 42006 | gain | external link | Pinto, 2010 |
| AutCNV0001270 | 8 | 8q13.3 | 73591578 | 73636709 | 45131 | gain | external link | Pinto, 2010 |
| AutCNV0001091 | 8 | 8q13.3 | 73600775 | 73636709 | 35934 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 73850175 | A | G | Y | Cukier HN, 2014 | ||||
| 8 | 73849256 | C | T | 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! | |||||||