Variant Details for BBS9
Basic Information Top
| Gene Symbol: | BBS9 ( B1,C18,D1,MGC118917,PTHB1 ) |
|---|---|
| Gene Full Name: | Bardet-Biedl syndrome 9 |
| Band: | 7p14.3 |
| Quick Links | Entrez ID:27241; OMIM: 607968; Uniprot ID:PTHB1_HUMAN; ENSEMBL ID: ENSG00000122507; HGNC ID: 30000 |
| 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 | 7 | 1 | 0 | 1 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002639 | 7 | 7p14.3 | 33131729 | 33187279 | 55550 | gain | external link | Pinto, 2010 |
| AutCNV0002638 | 7 | 7p14.3 | 33127539 | 33187279 | 59740 | gain | external link | Pinto, 2010 |
| AutCNV0001845 | 7 | 7p14.3 | 33131729 | 33187279 | 55550 | gain | external link | Pinto, 2010 |
| AutCNV0001844 | 7 | 7p14.3 | 33131729 | 33187279 | 55550 | gain | external link | Pinto, 2010 |
| AutCNV0001393 | 7 | 7p14.3 | 33133207 | 33187279 | 54072 | gain | external link | Pinto, 2010 |
| AutCNV0000882 | 7 | 7p14.3 | 33127539 | 33187279 | 59740 | gain | external link | Pinto, 2010 |
| AutCNV0000856 | 7 | 7p14.3 | 33127539 | 33187279 | 59740 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 33376045 | T | C | strong | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 33384197 | C | T | Deciphering Developmental Disorders Study., 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! | |||||||