rs886062839

This variant is located in the GNRH1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Isolated GnRH Deficiency

About GNRH1

This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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