GNRH1 Chromosome 8
Gonadotropin releasing hormone 1
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What This Gene Does
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]
Gene Info
Gene Group
Gonadotropin releasing hormone family
Locus Type
gene with protein product
Location
8p21.2
Ensembl
ENSG00000147437
Associated Conditions (6)
Hypogonadotropic hypogonadism 12 with or without anosmia
Hypogonadotropic hypogonadism
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Key Variants
RS1336171284
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism 12 with or without anosmia
Health Risk
RS2486975242
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
RS35542850
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 12 with or without anosmia, Ovarian serous cystadenocarcinoma, Thyroid cancer
Health Risk
RS368837931
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia
Health Risk
RS372089839
Conflicting classifications of pathogenicity
Health Risk
RS751932727
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia
Health Risk
RS587777859
Likely pathogenic
Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia
Health Risk
RS587777758
Pathogenic
Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia
Health Risk
RS755156319
Pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1336171284 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism 12 with or without anosmia |
| RS2486975242 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS35542850 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 12 with or without anosmia, Ovarian serous cystadenocarcinoma, Thyroid cancer |
| RS368837931 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia |
| RS372089839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751932727 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia |
| RS587777859 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia |
| RS587777758 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia |
| RS755156319 | Health Risk | Pathogenic | — |