Variant Details for CDH18
Basic Information Top
| Gene Symbol: | CDH18 ( CDH14,CDH14L,CDH24 ) |
|---|---|
| Gene Full Name: | cadherin 18, type 2 |
| Band: | 5p14.3 |
| Quick Links | Entrez ID:1016; OMIM: 603019; Uniprot ID:CAD18_HUMAN; ENSEMBL ID: ENSG00000145526; HGNC ID: 1757 |
| 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 | 2 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000289 | 5 | 5p14.2-15.1 | 15047000 | 24664243 | 9617243 | gain | external link | Keller, 2003 |
| AutCNV0000786 | 5 | 5p14.3 | 19496455 | 20322204 | 825749 | loss | external link | Pinto, 2010 |
| AutCNV0003206 | 5 | 5p14.3 | 19115144 | 19772620 | 657476 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 19473795 | C | T | Sanger sequencing | neutral | 0.2473 | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 21337171 | G | C | Doan RN, 2016 | |||||
| 5 | 21337172 | G | T | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000086 | 5p14.3 | 5 | D5S1473 | - | 1.4 | - | Buxbaum, 2004 |