Variant Details for CLCNKA
Basic Information Top
| Gene Symbol: | CLCNKA ( CLCK1,ClC-K1,MGC61490,hClC-Ka ) |
|---|---|
| Gene Full Name: | chloride channel Ka |
| Band: | 1p36.13 |
| Quick Links | Entrez ID:1187; OMIM: 602024; Uniprot ID:CLCKA_HUMAN; ENSEMBL ID: ENSG00000186510; HGNC ID: 2026 |
| 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 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002315 | 1 | 1p36.13 | 16344360 | 16383267 | 38907 | loss | external link | Pinto, 2010 |
| AutCNV0003872 | 1 | 1p36.13 | 16349426 | 16386464 | 37038 | gain | external link | Levy, 2011 |
| AutCNV0004683 | X | Xp21.1 | 32548066 | 32603018 | 54952 | loss | external link | Gazzellone MJ, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 16352629 | A | G | c.385A>G | p.Met129Val | Not_tested | neutral | 0.2619 | Takata A, 2018 |
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! | |||||||