GNRHR
gonadotropin releasing hormone receptor
Summary
This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants164 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886059554 | 4:68,603,122 | A/G | — | uncertain significance |
| rs561253321 | 4:68,603,187 | A/G | — | uncertain significance |
| rs149178613 | 4:68,603,279 | T/C | — | uncertain significance |
| rs79040488 | 4:68,603,396 | A/G | — | uncertain significance |
| rs1731573809 | 4:68,603,426 | T/C | — | uncertain significance |
| rs12507392 | 4:68,603,431 | A/G | — | likely benign |
| rs1314834107 | 4:68,603,450 | G/A | — | uncertain significance |
| rs1038426 | 4:68,603,535 | C/A | downstream gene variant | benign |
| rs377155481 | 4:68,603,610 | G/A | — | uncertain significance |
| rs1038427 | 4:68,603,702 | C/T | — | benign |
| rs2319657 | 4:68,603,757 | G/A | — | likely benign |
| rs781061386 | 4:68,603,870 | T/A | — | uncertain significance |
| rs576475427 | 4:68,603,950 | A/G | — | uncertain significance |
| rs1231172432 | 4:68,603,954 | A/G | — | uncertain significance |
| rs145112872 | 4:68,604,002 | C/T | — | uncertain significance |
| rs7666201 | 4:68,604,032 | C/T | — | benign |
| rs886059555 | 4:68,604,033 | T/C | — | uncertain significance |
| rs17635749 | 4:68,604,143 | C/T | — | benign |
| rs886059557 | 4:68,604,214 | A/G | — | uncertain significance |
| rs886059558 | 4:68,604,250 | G/A | — | uncertain significance |
| rs183815234 | 4:68,604,306 | G/T | — | uncertain significance |
| rs12508464 | 4:68,604,307 | A/C | — | benign |
| rs989136388 | 4:68,604,401 | T/C | — | uncertain significance |
| rs184206874 | 4:68,604,544 | G/A | — | uncertain significance |
| rs528286579 | 4:68,604,666 | G/T | — | uncertain significance |
| rs765394872 | 4:68,604,851 | T/C | — | uncertain significance |
| rs555225443 | 4:68,604,896 | C/G | — | uncertain significance |
| rs190775695 | 4:68,604,897 | T/C | — | uncertain significance |
| rs763058779 | 4:68,604,923 | C/T | — | uncertain significance |
| rs13150734 | 4:68,604,938 | C/A | — | benign |
| rs886059560 | 4:68,604,950 | T/G | — | uncertain significance |
| rs886059561 | 4:68,605,005 | G/A | — | uncertain significance |
| rs886059562 | 4:68,605,054 | T/C | — | uncertain significance |
| rs1011196434 | 4:68,605,270 | G/T | — | uncertain significance |
| rs963694391 | 4:68,605,286 | G/A | — | uncertain significance |
| rs886059563 | 4:68,605,366 | A/G | — | uncertain significance |
| rs17635850 | 4:68,605,369 | A/G | — | benign |
| rs886059564 | 4:68,605,379 | T/A | — | uncertain significance |
| rs35683646 | 4:68,605,389 | G/A | — | benign |
| rs113838900 | 4:68,605,392 | C/G | — | uncertain significance |
| rs35610027 | 4:68,605,396 | C/G | — | benign |
| rs566465436 | 4:68,605,468 | A/G | — | uncertain significance |
| rs1422742508 | 4:68,605,502 | T/A | — | uncertain significance |
| rs1476710655 | 4:68,605,530 | C/T | — | uncertain significance |
| rs535382437 | 4:68,605,536 | A/G | — | uncertain significance |
| rs1029319746 | 4:68,605,576 | A/G | — | uncertain significance |
| rs35845954 | 4:68,605,615 | T/C | — | benign |
| rs115861964 | 4:68,605,703 | A/G | — | uncertain significance |
| rs1731627299 | 4:68,605,724 | A/G | — | uncertain significance |
| rs1731627479 | 4:68,605,732 | A/C | — | uncertain significance |
| rs111894416 | 4:68,605,813 | T/C | — | likely benign |
| rs886059565 | 4:68,605,849 | T/G | — | uncertain significance |
| rs529064600 | 4:68,606,005 | T/C | — | uncertain significance |
| rs58921483 | 4:68,606,120 | C/T | — | likely benign |
| rs146305459 | 4:68,606,204 | A/G | — | benign |
| rs751868087 | 4:68,606,216 | A/G | — | likely benign |
| rs104893847 | 4:68,606,226 | G/A | missense variant | pathogenic |
| rs104893841 | 4:68,606,244 | A/T | stop gained | pathogenic |
| rs2475773876 | 4:68,606,275 | C/G | — | uncertain significance |
| rs573131117 | 4:68,606,297 | C/G | — | uncertain significance |
| rs1560516385 | 4:68,606,317 | A/G | — | uncertain significance |
| rs28933074 | 4:68,606,334 | T/C | missense variant | pathogenic |
| rs2475774004 | 4:68,606,337 | T/G | — | uncertain significance |
| rs1237982349 | 4:68,606,338 | A/G | — | pathogenic |
| rs1417516934 | 4:68,606,340 | G/A | — | likely pathogenic |
| rs515726220 | 4:68,606,343 | G/A | missense variant | pathogenic |
| rs1474926536 | 4:68,606,345 | C/G | — | uncertain significance |
| rs763161932 | 4:68,606,349 | C/T | — | pathogenic |
| rs1731641349 | 4:68,606,365 | T/C | — | uncertain significance |
| rs369176613 | 4:68,606,379 | G/A | missense variant | pathogenic |
| rs148499544 | 4:68,606,388 | A/C | — | pathogenic |
| rs104893837 | 4:68,606,400 | C/T | missense variant | pathogenic |
| rs753280668 | 4:68,606,401 | G/A | — | pathogenic |
| rs1221081120 | 4:68,606,402 | T/C | — | likely benign |
| rs886059566 | 4:68,606,412 | A/G | — | uncertain significance |
| rs746861473 | 4:68,606,439 | A/G | — | uncertain significance |
| rs886059567 | 4:68,606,451 | T/C | — | uncertain significance |
| rs17088591 | 4:68,610,251 | G/A | — | benign |
| rs77573992 | 4:68,610,269 | C/T | — | benign |
| rs182531866 | 4:68,610,309 | C/T | — | conflicting classifications of pathogenicity |
| rs200026876 | 4:68,610,310 | G/A | — | uncertain significance |
| rs2109983377 | 4:68,610,351 | A/G | — | uncertain significance |
| rs377457276 | 4:68,610,362 | G/A | — | conflicting classifications of pathogenicity |
| rs2475791950 | 4:68,610,376 | A/G | — | uncertain significance |
| rs104893839 | 4:68,610,377 | G/T | missense variant | pathogenic |
| rs144451862 | 4:68,610,380 | G/A | — | conflicting classifications of pathogenicity |
| rs1057520762 | 4:68,610,395 | A/T | stop gained | pathogenic |
| rs147822774 | 4:68,610,452 | A/G | — | uncertain significance |
| rs1731725743 | 4:68,610,488 | C/T | — | uncertain significance |
| rs1426900683 | 4:68,610,500 | G/A | — | likely benign |
| rs797044452 | 4:68,610,506 | C/T | — | pathogenic |
| rs557311093 | 4:68,619,533 | T/C | — | pathogenic |
| rs74452732 | 4:68,619,543 | C/T | missense variant | pathogenic |
| rs104893840 | 4:68,619,550 | A/T | missense variant | pathogenic |
| rs773986790 | 4:68,619,589 | G/A | — | uncertain significance |
| rs4986942 | 4:68,619,601 | A/G | — | benign |
| rs144900788 | 4:68,619,618 | G/A | — | conflicting classifications of pathogenicity |
| rs2109987906 | 4:68,619,624 | T/G | — | uncertain significance |
| rs104893842 | 4:68,619,638 | C/T | missense variant | pathogenic |
| rs1325732095 | 4:68,619,639 | G/A | — | pathogenic |
Showing 100 of 164 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.