Variant Details for CTNNA3
Basic Information Top
| Gene Symbol: | CTNNA3 ( MGC26194,MGC75041,VR22 ) |
|---|---|
| Gene Full Name: | catenin (cadherin-associated protein), alpha 3 |
| Band: | 10q21.3 |
| Quick Links | Entrez ID:29119; OMIM: 607667; Uniprot ID:CTNA3_HUMAN; ENSEMBL ID: ENSG00000183230; HGNC ID: 2511 |
| 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 | 19 | 0 | 1 | 2 | 0 | 0 | 22 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000090 | 10 | 10q21.3 | 68754894 | 68882094 | 127200 | gain | external link | Szatmari, 2007 |
| AutCNV0002750 | 10 | 10q21.3 | 68219764 | 68250653 | 30889 | gain | external link | Pinto, 2010 |
| AutCNV0000835 | 10 | 10q21.3 | 68018361 | 68089301 | 70940 | loss | external link | Pinto, 2010 |
| AutCNV0001976 | 10 | 10q21.3 | 68429563 | 68492082 | 62519 | loss | external link | Pinto, 2010 |
| AutCNV0001975 | 10 | 10q21.3 | 68399159 | 68507421 | 108262 | loss | external link | Pinto, 2010 |
| AutCNV0001974 | 10 | 10q21.3 | 68317083 | 68386514 | 69431 | loss | external link | Pinto, 2010 |
| AutCNV0001290 | 10 | 10q21.3 | 68468580 | 68557553 | 88973 | loss | external link | Pinto, 2010 |
| AutCNV0001110 | 10 | 10q21.3 | 68353739 | 68401031 | 47292 | loss | external link | Pinto, 2010 |
| AutCNV0001109 | 10 | 10q21.3 | 68208889 | 68264184 | 55295 | loss | external link | Pinto, 2010 |
| AutCNV0001108 | 10 | 10q21.3 | 67958177 | 68082484 | 124307 | loss | external link | Pinto, 2010 |
| AutCNV0000838 | 10 | 10q21.3 | 68359134 | 68513927 | 154793 | loss | external link | Pinto, 2010 |
| AutCNV0000837 | 10 | 10q21.3 | 68317083 | 68397304 | 80221 | loss | external link | Pinto, 2010 |
| AutCNV0000836 | 10 | 10q21.3 | 68168954 | 68215155 | 46201 | loss | external link | Pinto, 2010 |
| AutCNV0003826 | 10 | 10q21.3 | 68506522 | 68570019 | 63497 | loss | external link | Levy, 2011 |
| AutCNV0003659 | 10 | 10q21.3 | 68071613 | 68102333 | 30720 | loss | external link | Gai, 2011 |
| AutCNV0003658 | 10 | 10q21.3 | 68054482 | 68208889 | 154407 | loss | external link | Gai, 2011 |
| AutCNV0003657 | 10 | 10q21.3 | 67958177 | 68082484 | 124307 | loss | external link | Gai, 2011 |
| AutCNV0003319 | 10 | 10q21.3 | 68504735 | 68524967 | 20232 | loss | external link | Gai, 2011 |
| AutCNV0004672 | 10 | loss | Bacchelli E, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 10 | 69366755 | C | G | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 67829183 | T | C | p.K681R | Y | neutral | 0.1104 | Brett M, 2014 | |
| 10 | 68381521 | p.M434V | Y | Butler MG, 2015 |
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! | |||||||