rs71640277

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs71640277(C;C)

Make rs71640277(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63918016

Gene

GH1

is a	snp
is	mentioned by
dbSNP	rs71640277
dbSNP (classic)	rs71640277
ClinGen	rs71640277
ebi	rs71640277
HLI	rs71640277
Exac	rs71640277
Gnomad	rs71640277
Varsome	rs71640277
LitVar	rs71640277
Map	rs71640277
PheGenI	rs71640277
Biobank	rs71640277
1000 genomes	rs71640277
hgdp	rs71640277
ensembl	rs71640277
geneview	rs71640277
scholar	rs71640277
google	rs71640277
pharmgkb	rs71640277
gwascentral	rs71640277
openSNP	rs71640277
23andMe	rs71640277
SNPshot	rs71640277
SNPdbe	rs71640277
MSV3d	rs71640277
GWAS Ctlg	rs71640277

Max Magnitude

0

ClinVar
Risk	rs71640277(A;A) rs71640277(C;C)
Alt	rs71640277(A;A) rs71640277(C;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).