Variant Details for CTNNB1
Basic Information Top
| Gene Symbol: | CTNNB1 ( CTNNB,DKFZp686D02253,FLJ25606,FLJ37923 ) |
|---|---|
| Gene Full Name: | catenin (cadherin-associated protein), beta 1, 88kDa |
| Band: | 3p22.1 |
| Quick Links | Entrez ID:1499; OMIM: 116806; Uniprot ID:CTNB1_HUMAN; ENSEMBL ID: ENSG00000168036; HGNC ID: 2514 |
| 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 | 6 | 1 | 1 | 0 | 0 | 8 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 41275757 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 3 | 41275346 | G | R | p.Trp504Unk | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 41275757 | C | Y | p.Thr551Met | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 41275346 | G | A | c.1512G>A | p.Trp504Ter | Y | O'Roak BJ, 2014 | ||
| 3 | 41300342 | G | p.Trp504X | O'Roak BJ, 2012 | |||||
| 3 | 41300753 | C | p.Thr551Met | O'Roak BJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 3 | 41274877 | G | A | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| G752A | Y | Alvarez-Mora MI, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||