Variant Details for MUC5B
Basic Information Top
| Gene Symbol: | MUC5B ( MG1,MUC-5B,MUC5,MUC9 ) |
|---|---|
| Gene Full Name: | mucin 5B, oligomeric mucus/gel-forming |
| Band: | 11p15.5 |
| Quick Links | Entrez ID:727897; OMIM: 600770; Uniprot ID:MUC5B_HUMAN; ENSEMBL ID: ENSG00000117983; HGNC ID: 7516 |
| 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 | 5 | 0 | 0 | 0 | 0 | 5 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 1264158 | T | C | strong | Iossifov I, 2014 | ||||
| 11 | 1265831 | T | C | strong | neutral | 0.0003 | Iossifov I, 2014 | ||
| 11 | 1269758 | C | T | strong | neutral | 0.0265 | Iossifov I, 2014 | ||
| 11 | 1271969 | GCACAACCACCACACC | G | strong | Iossifov I, 2014 | ||||
| 11 | 1255489 | CT | C | Y | Turner T, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||