GNRH1
gonadotropin releasing hormone 1
Summary
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]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28665283 | 8:25,276,734 | C/T | — | likely benign |
| rs372089839 | 8:25,276,944 | C/A | — | conflicting classifications of pathogenicity |
| rs146523104 | 8:25,276,976 | C/G | — | benign |
| rs550878484 | 8:25,276,988 | A/G | — | uncertain significance |
| rs751932727 | 8:25,279,081 | T/G | — | conflicting classifications of pathogenicity |
| rs1801773599 | 8:25,279,116 | A/T | — | uncertain significance |
| rs776710550 | 8:25,279,132 | G/A | — | uncertain significance |
| rs6186 | 8:25,279,143 | G/A | — | benign |
| rs574867408 | 8:25,279,148 | G/A | — | uncertain significance |
| rs368837931 | 8:25,279,149 | T/C | — | conflicting classifications of pathogenicity |
| rs201184458 | 8:25,279,183 | A/C | — | uncertain significance |
| rs76986108 | 8:25,280,425 | T/C | — | likely benign |
| rs116002345 | 8:25,280,504 | T/C | — | likely benign |
| rs17053646 | 8:25,280,621 | T/C | — | benign |
| rs2709608 | 8:25,280,666 | A/C | — | benign |
| rs35542850 | 8:25,280,706 | C/G | — | conflicting classifications of pathogenicity |
| rs1336171284 | 8:25,280,755 | C/T | — | conflicting classifications of pathogenicity |
| rs2486975242 | 8:25,280,756 | G/A | — | conflicting classifications of pathogenicity |
| rs2486975278 | 8:25,280,761 | C/T | — | uncertain significance |
| rs2486975346 | 8:25,280,774 | G/C | — | uncertain significance |
| rs1360890779 | 8:25,280,784 | G/A | — | likely benign |
| rs749443966 | 8:25,280,795 | C/T | — | uncertain significance |
| rs6185 | 8:25,280,800 | C/G | — | benign |
| rs765427927 | 8:25,280,876 | A/G | — | uncertain significance |
| rs886062837 | 8:25,280,957 | T/C | — | uncertain significance |
| rs886062838 | 8:25,280,987 | C/T | — | uncertain significance |
| rs886062839 | 8:25,280,995 | C/T | — | uncertain significance |
| rs17790824 | 8:25,281,329 | G/A | — | likely benign |
| rs534899690 | 8:25,281,523 | G/T | — | uncertain significance |
| rs962938386 | 8:25,281,658 | C/A | — | uncertain significance |
| rs78322917 | 8:25,281,712 | T/G | — | likely benign |
| rs566037144 | 8:25,281,842 | G/C | — | uncertain significance |
| rs1801818194 | 8:25,282,056 | C/T | — | uncertain significance |
| rs912543990 | 8:25,282,174 | G/A | — | uncertain significance |
| rs1045519607 | 8:25,282,482 | C/T | — | uncertain significance |
| rs2321048 | 8:25,282,592 | T/C | — | benign |
| rs2321049 | 8:25,282,849 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.