The IGF1 gene homepage

A Growth Genetics Consortium gene variant database
General information
Gene symbol IGF1
Gene name insulin-like growth factor 1 (somatomedin C)
Chromosome 12
Chromosomal band q23.2
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_000618.3, NM_001111283.1
Exon/intron information NM_000618.3 exon/intron table, NM_001111283.1 exon/intron table
Associated with diseases ID, Growth retardation with deafness and mental retardation due to IGF1 deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Marie-Jose Walenkamp and Jan Maarten Wit
Total number of public variants reported 45
Unique public DNA variants reported 34
Individuals with public variants 26
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium.
Date created June 01, 2008
Date last updated November 27, 2023
Version IGF1:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000618.3, NM_001111283.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Growth Genetics Consortium
HGNC 5464
Entrez Gene 3479
PubMed articles IGF1
OMIM - Gene 147440
OMIM - Diseases Growth retardation with deafness and mental retardation due to IGF1 deficiency
GeneCards IGF1
GeneTests IGF1
Orphanet IGF1

Active transcripts




NCBI ID     

NCBI Protein ID     

00009866 12 transcript variant 4 NM_000618.3 NP_000609.1 45
00024241 12 transcript variant 1 NM_001111283.1 NP_001104753.1 36

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2008-2023. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.