{{Rsnum
|rsid=71640277
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=GH1
|position=63918016
|Gene_s=GH1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=71640277
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=61995376
|CHROM=17
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|GENEINFO=GH1:2688
|GENE_NAME=GH1
|GENE_ID=2688
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.61995376C>G
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Autosomal dominant isolated somatotropin deficiency
|Disease=Autosomal dominant isolated somatotropin deficiency
|Tags=RV;PM;PMC;OTHERKG;LSD
|CLNACC=RCV000029935.1
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C0271567:173100:231679:631:237687003
}}{{PMID Auto
|PMID=8530604
|Title=A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.
}}

{{PMID Auto
|PMID=8923859
|Title=Mechanisms responsible for dominant expression of human growth hormone gene mutations.
}}

{{PMID Auto
|PMID=9432120
|Title=Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.
}}

{{PMID Auto
|PMID=9799079
|Title=The molecular genetics of growth hormone deficiency.
}}

{{PMID Auto
|PMID=10549303
|Title=Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients.
}}

{{PMID Auto
|PMID=18785993
|Title=Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
}}