Warning Because of migration to a different server, this LOVD installation is currently available through two different addresses: http://chromium.liacs.nl/LOVD2/growth and http://chromium.lovd.nl/LOVD2/growth.
The first address will expire in the near future, please update your bookmarks to http://chromium.lovd.nl/LOVD2/growth.

This database has been established by the Growth Consortium. The variants we have collected can be visualised without registration, just follow the links on these pages (for an explanation regarding all possibilities see Documentation). Note that the database contains much more information (esp. regarding the phenotype) then displayed. Part of this non-public data can be queried, retrieving the number of records fulfilling your query (see Search through hidden entries and Documentation). To get actual access to the non-public data you have to contact the curator(s).
When you study the genes we cover, please consider to become an active collaborator, register as submitter, login and submit the patients/variants you have studied. Note that these databases have most value when really ALL variants are reported.
NOTE: the consortium is in contact with Mauno Vihinen, curator of the STAT5Bbase in Finland (LSDBs for immunodeficiency-causing mutations), to discuss the best way to share and exchange data for the STAT5B gene.
LOVD STAT5B homepage

General information
Gene name Signal Transducer and Activator of Transcription 5B
Gene symbol STAT5B
Chromosome Location 17q11.2
Database location chromium.lovd.nl
Curator Ron Rosenfeld and Vivian Hwa
PubMed references View all (unique) PubMed references in the STAT5B database
Date of creation June 13, 2008
Last update September 07, 2009
Version STAT5B090907
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_007271.1
Transcript refseq ID NM_012448.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 5
Total number of individuals with variant(s) 6
Total number of variants reported 12
Subscribe to updates of this gene
NOTE NOTE: the consortium is in contact with Mauno Vihinen, curator of the STAT5Bbase in Finland (LSDBs for immunodeficiency-causing mutations), to discuss the best way to share and exchange data for the STAT5B gene.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the STAT5B 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 STAT5B database, without patient data
Complete sequence variant listing Listing of all sequence variants in the STAT5B database
Variants with no known pathogenicity Listing of all STAT5B 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

Links to other resources
HGNC 11367
Entrez Gene 6777
OMIM - Gene 604260
OMIM - Disease Growth Hormone insensitivity with immunodeficiency
GeneTests STAT5B
External link #1 Orphanet
External link #2 Growth Consortium
External link #3 STAT5Bbase

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2016. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.