LOVD SHOX homepage

General information
Gene name Short stature homeobox
Gene symbol SHOX
Chromosome Location Xp22.33
Database location www.LOVD.nl/MR
Curator Ralph Roeth and Gudrun Rappold
PubMed references View all (unique) PubMed references in the SHOX database
Date of creation March 06, 2009
Last update October 06, 2016
Version SHOX161006
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009385.1
Transcript refseq ID NM_000451.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1181
Total number of individuals with variant(s) 2534
Total number of variants reported 2505
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NOTE This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes (Xp22.33 and Yp11.32).

Diagnostic testing: Molecular diagnostics for the SHOX gene is carried out by Esoterix/Labcorp for North America and Bioscientia for Europe.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the SHOX database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SHOX database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SHOX database
Variants with no known pathogenicity Listing of all SHOX variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.LOVD.nl/SHOX
HGNC 10853
Entrez Gene 6473
OMIM - Gene 312865
OMIM - Disease #1 Langer mesomelic dysplasia
OMIM - Disease #2 Leri-Weill dyschondrosteosis
OMIM - Disease #3 short stature, idiopathic familial
GeneCards SHOX
GeneTests SHOX
External link #1 SHOX Group Heidelberg
External link #2 Lilly
External link #3 Bioscientia
External link #4 Esoterix
External link #5 Orphanet
External link #6 HapMap
External link #7 BKMF
External link #8 Dyschondrosteosis and Madelung Wrist Deformity
External link #9 HMGD
External link #10 HGVS
External link #11 1000 Genomes Browser
External link #12 ExAC
External link #13 Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
External link #14 CYP26C1

Copyright & disclaimer
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