Variant Details for SHOX


Gene Symbol: | SHOX ( GCFX,PHOG,SHOXY,SS ) |
---|---|
Gene Full Name: | short stature homeobox |
Band: | Xp22.33 and Yp11.32 |
Quick Links | Entrez ID:6473; OMIM: 312865,400020; Uniprot ID:SHOX_HUMAN; ENSEMBL ID: ENSG00000185960; HGNC ID: 10853 |
Relate to Another Database: | SFARIGene; denovo-db |


Click 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 | 6 | 0 | 0 | 0 | 0 | 0 | 6 |


CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000161 | X | Xp22.33-22.31 | 94419 | 5999994 | 5905575 | loss | external link | Marshall, 2008 |
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 |
AutCNV0004664 | X (Y) | 70397 | 2431564 | 2361167 | loss | external link | Laplana M, 2014 | |
AutCNV0005872 | X | Xp22.33 | 168546 | 2703633 | 2535087 | gain | external link | Alvarez-Mora MI, 2016 |
AutCNV0005873 | Y | Yp11.32p11.31 | 168546 | 2703633 | 2535087 | gain | external link | Alvarez-Mora MI, 2016 |


iFish (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 |
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No related data! |


Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
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No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |