rs1336171284
This variant is located in the GNRH1 gene.
▶ClinVar annotation
not provided; Hypogonadotropic hypogonadism 12 with or without anosmia; Hypogonadotropic hypogonadism
View on ClinVar →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]
View all GNRH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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