Variant Details for SLC26A5
Basic Information Top
| Gene Symbol: | SLC26A5 ( DFNB61,MGC118886,MGC118887,MGC118888,MGC118889,PRES ) |
|---|---|
| Gene Full Name: | solute carrier family 26, member 5 (prestin) |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:375611; OMIM: 604943; Uniprot ID:S26A5_HUMAN; ENSEMBL ID: ENSG00000170615; HGNC ID: 9359 |
| 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 | 2 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000845 | 7 | 7q22.1 | 102912596 | 103011509 | 98913 | loss | external link | Pinto, 2010 |
| AutCNV0004265 | 7 | 7q22.1 | 102912596 | 103011509 | 98913 | loss | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 103014942 | G | C | c.2043C>G | p.Ser681Arg | Sanger sequencing | neutral | 0.0256 | Sanders SJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000031 | 7q22.1 | 7 | D7S477 | 3.2 | - | - | Monaco, 2001 |