The GH1 gene homepage

General information
Gene symbol GH1
Gene name growth hormone 1
Chromosome 17
Chromosomal band q22-q24
Imprinted Unknown
Genomic reference NG_011676.1
Transcript reference NM_000515.3
Exon/intron information NM_000515.3 exon/intron table
Associated with diseases IGHD-1A, IGHD-1B, IGHD-2, Kowarski
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 13
Individuals with public variants 5
Hidden variants 9
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.
Date created May 03, 2013
Date last updated September 17, 2021
Version GH1:210917

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_000515.3.
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 https://www.LOVD.nl/GH1
HGNC 4261
Entrez Gene 2688
PubMed articles GH1
OMIM - Gene 139250
OMIM - Diseases IGHD-1A (growth hormone deficiency, isolated, type IA (IGHD-1A))
IGHD-1B (growth hormone deficiency, isolated, type IB (IGHD-1B))
IGHD-2 (growth hormone deficiency, isolated, type II (IGHD-2))
Kowarski (Kowarski syndrome)
HGMD GH1
GeneCards GH1
GeneTests GH1
Orphanet GH1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008493 17 transcript variant 1 NM_000515.3 NP_000506.2 14


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