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When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.

SHOX @ http://www.hd-lovd.uni-hd.de/
General information
Gene name: Short Stature Homeobox Gene
Gene symbol: SHOX
Chromosome Location: Xp22.3
Database location: http://www.hd-lovd.uni-hd.de/
Curator: Steffi Wilke, Dr. Beate Niesler, Dipl. Ing. (FH) Ralph Roeth and Prof. Gudrun Rappold
Date of creation: August 01, 2006
Last update: March 29, 2012
Version: SHOX120329
Add allelic variant: Submit an allelic variant
First time submitters: Register here
coding DNA reference sequence: SHOX reference sequence for describing allelic variants
Total number of allelic variants: 1171
Number of unique allelic variants: 229
Diagnostic testing: Molecular diagnostics for the SHOX gene is carried out by Esoterix/Labcorp for North America and Bioscientia for Europe.
NOTE: This database intends to offer guidelines, whether a variant is disease-related or not. Mutations were considered as disease causing when a) functional data showed that protein function was impaired or b) mutations affected a functional crucial domain of the protein or c) they destroyed the original open reading frame (frameshift or nonsense mutations) leading to a stop codon and to nonsense mediated mRNA decay or d) they co-segregated with short stature disorders (familial case) or e) the variant was not found in at least 100 control chromosomes. Note that in most instances 100 control chromosomes not allow a distinction between polymorphism and causative mutation. Curators disclaim any responsability for the content of the linked websites. The database establishment and maintenance has been supported by Eli Lilly.

Allelic variant tables
Complete allelic variant table: Listing of all allelic variants in the SHOX database
Summary allelic variant tables: Summary of all allelic variants in the SHOX database, sorted by type of variant (with graphical displays and statistics)
Mutation table: Listing of all disease related mutations in the SHOX database, sorted by type of variant
Summary mutation tables: Summary of all mutation variants in the SHOX database, sorted by type of variant (with graphical displays and statistics)
Polymorphism table: Listing of all SHOX variants reported to have no noticeable phenotypic effect

Search the database
By type of variant: View allelic variant table after selecting one type of variant
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

Links to other resources:
Other link http://www.hapmap.org/cgi-perl/gbrowse/hapmap3r2_B36
Other link http://www.bkmf.de/
Other link http://www.divdev.fsnet.co.uk/dysch.htm
Other link http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SHOX
Other link http://www.esoterix.com
Other link http://www.bioscientia.de
Other link http://www.lilly.com/Pages/home.aspx
Other link http://www.hgvs.org
Other link http://www.humgen.nl/mutalyzer/1.0.1/
Entrez Gene (LocusLink) 6473
OMIM - gene 312865
OMIM - disease 604271 (IDIOPATHIC SHORT STATURE)
OMIM - disease 127300 (LERI-WEILL DYSCHONDROSTEOSIS)
OMIM - disease 249700 (LANGER MESOMELIC DYSPLASIA)


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