Variant Details for GJB6
Basic Information Top
| Gene Symbol: | GJB6 ( CX30,DFNA3,DFNA3B,DFNB1B,ED2,EDH,HED ) |
|---|---|
| Gene Full Name: | gap junction protein, beta 6, 30kDa |
| Band: | 13q12.11 |
| Quick Links | Entrez ID:10804; OMIM: 604418; Uniprot ID:CXB6_HUMAN; ENSEMBL ID: ENSG00000121742; HGNC ID: 4288 |
| 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 | 0 | 0 | 2 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003969 | 13 | 13q12.11 | 20803123 | 21034039 | 230916 | loss | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| chr13 | 20796930 | T | p.N230fs | Y | Yuen RK, 2015 | ||||
| 13 | 20796930-931 | - | T | Toma C, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000154 | 13q12.11-q12.3 | 13 | rs6490970 | 1.93 | - | - | Allen-Brady, 2010 |