Variant Details for ARSD
Basic Information Top
| Gene Symbol: | ARSD ( - ) |
|---|---|
| Gene Full Name: | arylsulfatase D |
| Band: | Xp22.33 |
| Quick Links | Entrez ID:414; OMIM: 300002; Uniprot ID:ARSD_HUMAN; ENSEMBL ID: ENSG00000006756; HGNC ID: 717 |
| 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 | 9 | 0 | 0 | 0 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000301 | X | Xp22 | 920589 | 12345395 | 11424806 | loss | external link | Thomas, 1999 |
| AutCNV0000300 | X | Xp22 | 920589 | 9639551 | 8718962 | loss | external link | Thomas, 1999 |
| AutCNV0000299 | X | Xp22 | 620645 | 8740227 | 8119582 | loss | external link | Thomas, 1999 |
| AutCNV0004634 | X | Xp11.4 | 37615060 | 42415056 | 4799996 | gain | external link | Cai, 2008 |
| AutCNV0004633 | 17 | 17p11.2 | 15959275 | 22175873 | 6216598 | loss | external link | Cai, 2008 |
| AutCNV0000161 | X | Xp22.33-22.31 | 94419 | 5999994 | 5905575 | loss | external link | Marshall, 2008 |
| AutCNV0003013 | X | Xp22.33 | 2727310 | 3032054 | 304744 | gain | external link | Pinto, 2010 |
| AutCNV0004398 | X | Xp22.32-p22.33 | 94419 | 5849730 | 5755311 | loss | external link | Sanders, 2011 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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! | |||||||