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.
LOVD IGF1 homepage

General information
Gene name Insulin-like Growth Factor 1
Gene symbol IGF1
Chromosome Location 12q22-q23
Database location chromium.liacs.nl
Curator Jan Maarten Wit and Marie-Jose Walenkamp
PubMed references View all (unique) PubMed references in the IGF1 database
Date of creation June 01, 2008
Last update September 06, 2009
Version IGF1 090906
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
GenBank reference IGF1_NG011713.1.gb
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 3
Total number of individuals with variant(s) 3
Total number of variants reported 6
Subscribe to updates of this gene

Graphical displays and utilities
Summary tables Summary of all sequence variants in the IGF1 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the IGF1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the IGF1 database
Variants with no known pathogenicity Listing of all IGF1 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
External link #1 Orphanet
External link #2 Growth Consortium
HGNC 5464
Entrez Gene 3479
OMIM - Gene 147440
OMIM - Disease insulin-like growth factor-1 deficiency (IGF-1d)
HGMD IGF1
GeneTests IGF1

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 © 2012. 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.