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rs71640277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs71640277(C;C)
Make rs71640277(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63918016
GeneGH1
is asnp
is mentioned by
dbSNPrs71640277
ebirs71640277
HLIrs71640277
Exacrs71640277
Varsomers71640277
Maprs71640277
PheGenIrs71640277
hapmaprs71640277
1000 genomesrs71640277
hgdprs71640277
ensemblrs71640277
gopubmedrs71640277
geneviewrs71640277
scholarrs71640277
googlers71640277
pharmgkbrs71640277
gwascentralrs71640277
openSNPrs71640277
23andMers71640277
23andMe allrs71640277
SNP Nexus

SNPshotrs71640277
SNPdbers71640277
MSV3drs71640277
GWAS Ctlgrs71640277
Max Magnitude0
ClinVar
Risk rs71640277(A,C;A,C)
Alt rs71640277(A,C;A,C)
Reference rs71640277(G;G)
Significance Pathogenic
Disease Autosomal dominant isolated somatotropin deficiency
Variation info
Gene GH1
CLNDBN Autosomal dominant isolated somatotropin deficiency
Reversed 1
HGVS NC_000017.10:g.61995376C>G; NC_000017.10:g.61995376C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017341.27, RCV000017340.29,


[PMID 8530604] A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.


[PMID 8923859] Mechanisms responsible for dominant expression of human growth hormone gene mutations.


[PMID 9432120] Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.


[PMID 9799079] The molecular genetics of growth hormone deficiency.


[PMID 10549303] Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients.


[PMID 18785993] Genetic screening of a Dutch population with isolated GH deficiency (IGHD).