Variant: rs121918118 

    present in Gene: GHRHR
    present in Chromosome: 7
    Position on Chromosome: 30971183
    Alleles of this Variant: T/A

rs121918118 in GHRHR gene and ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV PMID 10084571 1999 Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

PMID 12534354 2003 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.

PMID 11232012 2001 Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

PMID 9467553 1998 Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

PMID 8528260 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.