Variant Details for CDH23
Basic Information Top
| Gene Symbol: | CDH23 ( CDHR23,DKFZp434P2350,FLJ00233,FLJ36499,KIAA1774,KIAA1812,MGC102761,USH1D ) |
|---|---|
| Gene Full Name: | cadherin-related 23 |
| Band: | 10q22.1 |
| Quick Links | Entrez ID:64072; OMIM: 605516; Uniprot ID:CAD23_HUMAN; ENSEMBL ID: ENSG00000107736; HGNC ID: 13733 |
| 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 | 0 | 3 | 0 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 73464800 | G | A | Sanger sequencing | deleterious | 0.9718 | De Rubeis S, 2014 | ||
| 10 | 73491982 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 10 | 73491982 | C | T | Fromer M, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 73537449 | G | A | 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! | |||||||