Variant Details for ATRX
Basic Information Top
| Gene Symbol: | ATRX ( ATR2,MGC2094,MRXHF1,RAD54,RAD54L,SFM1,SHS,XH2,XNP,ZNF-HX ) |
|---|---|
| Gene Full Name: | alpha thalassemia/mental retardation syndrome X-linked |
| Band: | Xq21.1 |
| Quick Links | Entrez ID:546; OMIM: 300032; Uniprot ID:ATRX_HUMAN; ENSEMBL ID: ENSG00000085224; HGNC ID: 886 |
| 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 | 0 | 0 | 4 | 0 | 0 | 4 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 76938923 | G | C | p.P609A | Y | neutral | 0.0211 | Brett M, 2014 | |
| X | 76776310 | c.7156C>T | p.R2386X | Y | Brett M, 2014 | ||||
| X | 76939069 | G | C | Deciphering Developmental Disorders Study., 2015 | |||||
| X | 76814250 | C | T | c.1066G4C | p.E356Q | Li J, 2017 |
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! | |||||||