Variant Details for GJD2
Basic Information Top
| Gene Symbol: | GJD2 ( CX36,GJA9,MGC138315,MGC138319 ) |
|---|---|
| Gene Full Name: | gap junction protein, delta 2, 36kDa |
| Band: | 15q14 |
| Quick Links | Entrez ID:57369; OMIM: 607058; Uniprot ID:CXD2_HUMAN; ENSEMBL ID: ENSG00000159248; HGNC ID: 19154 |
| 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 | 0 | 0 | 4 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000592 | 15 | 15q14 | 34570811 | 35136735 | 565924 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000055 | 15q14 | 15 | D15S118 | 1.1 | - | - | Philippe, 1999 |
| AutLD0000136 | 15q14 | 15 | D15S1042 | - | - | 0.00917 | Lauritsen, 2006 |
| AutLD0000155 | 15q13.1-q14 | 15 | rs8033248 | 4.09 | - | - | Allen-Brady, 2010 |
| AutLD0000156 | 15q14-q21.1 | 15 | rs723049 | 3.59 | - | - | Allen-Brady, 2010 |