Variant: rs121917883 

    present in Gene: GHSR
    present in Chromosome: 3
    Position on Chromosome: 172447803
    Alleles of this Variant: G/A;T

rs121917883 in GHSR gene and Dysmorphic features PMID 27023906 2016 Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

PMID 21646290 2011 Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

PMID 16511605 2006 Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

PMID 19789204 2009 Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

rs121917883 in GHSR gene and Short Stature, Idiopathic, Autosomal PMID 16511605 2006 Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

PMID 19789204 2009 Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.