GHR gene homepage

A Growth Genetics Consortium gene variant database
General information
Gene symbol GHR
Gene name growth hormone receptor
Chromosome 5
Chromosomal band p14-p12
Imprinted Not imprinted
Genomic reference NG_011688.1
Transcript reference NM_000163.4
Exon/intron information NM_000163.4 exon/intron table
Associated with diseases FH, GHIP, Laron
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) MO Savage, Ron Rosenfeld and Vivian Hwa
Total number of public variants reported 115
Unique public DNA variants reported 67
Individuals with public variants 135
Hidden variants 32
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 October 17, 2016
Version GHR:161017

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_000163.4.
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 http://www.LOVD.nl/GHR
External URL Orphanet
Growth Genetics Consortium
HGNC 4263
Entrez Gene 2690
PubMed articles GHR
OMIM - Gene 600946
OMIM - Diseases FH (hypercholesterolemia, familial (FH))
GHIP (hormomen, growth, insensitivity, partial (GHIP))
Laron (Laron syndrome)
HGMD GHR
GeneCards GHR
GeneTests GHR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008497 5 transcript variant 1 NM_000163.4 NP_000154.1 115


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 © 2008-2019. 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.