GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Laron Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755905735
rs755905735
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C0271568
Disease:
Laron Syndrome 		0.010 GeneticVariation BEFREE The formerly in patients with Laron syndrome and idiopathic short stature reported mutation R179C leads to an amino acid change from an arginine residue (codon CGC) to a cysteine residue (codon TGC) in position 179 of the extracellular domain of the GHR. 17462934 2007