GHR

Gene name: growth hormone receptor
OMIM ID: 600946
Chromosome location: 5p13-p12

Mutations

Disease/Phenotype	Laron syndrome
Reference transcript	NM_001242400.2
DNA Change	c.594A>G
A.A. Change	p.Glu198=
Exon/Intron	intron 6
Mutation Type	substitution
Reference	Laron Z.Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. J Clin Endocrinol Metab. 2004 Mar;89(3):1031-44.

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