rs147683685

This variant is located in the GHSR gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

Short stature due to growth hormone secretagogue receptor deficiency

About GHSR

This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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