PTH1R
parathyroid hormone 1 receptor
Summary
The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Known Variants297 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886058583 | 3:46,919,273 | G/A | — | uncertain significance |
| rs2030528606 | 3:46,922,593 | C/A | — | uncertain significance |
| rs532443298 | 3:46,924,715 | C/T | — | likely benign |
| rs201663714 | 3:46,925,013 | G/A | — | likely benign |
| rs1250201262 | 3:46,925,062 | C/G | — | uncertain significance |
| rs1257452316 | 3:46,925,072 | C/G | — | uncertain significance |
| rs2545000601 | 3:46,925,074 | G/A | — | uncertain significance |
| rs567440911 | 3:46,925,083 | C/T | — | uncertain significance |
| rs1169828626 | 3:46,925,099 | C/T | — | uncertain significance |
| rs749062175 | 3:46,925,100 | C/G | — | benign |
| rs780469309 | 3:46,925,106 | C/G | — | uncertain significance |
| rs2106957940 | 3:46,925,114 | C/T | — | uncertain significance |
| rs1321611796 | 3:46,925,131 | C/T | — | likely benign |
| rs200710310 | 3:46,925,133 | C/T | — | conflicting classifications of pathogenicity |
| rs200603325 | 3:46,925,136 | G/A | — | likely benign |
| rs191849410 | 3:46,929,849 | C/A | regulatory region variant | — |
| rs2545024978 | 3:46,935,385 | T/C | — | likely benign |
| rs1364472371 | 3:46,935,386 | C/T | — | likely benign |
| rs1559532562 | 3:46,935,424 | G/A | — | uncertain significance |
| rs794727622 | 3:46,935,430 | C/A | — | uncertain significance |
| rs552828104 | 3:46,935,438 | C/T | — | likely benign |
| rs387907458 | 3:46,935,445 | C/T | — | uncertain significance |
| rs141466964 | 3:46,935,449 | G/A | — | conflicting classifications of pathogenicity |
| rs201908157 | 3:46,935,455 | A/G | — | uncertain significance |
| rs201320537 | 3:46,935,457 | G/A | — | uncertain significance |
| rs199670451 | 3:46,935,458 | C/A | — | conflicting classifications of pathogenicity |
| rs568635759 | 3:46,935,465 | C/T | — | conflicting classifications of pathogenicity |
| rs199621988 | 3:46,935,473 | G/A | — | uncertain significance |
| rs2031584477 | 3:46,935,475 | C/T | — | uncertain significance |
| rs960888191 | 3:46,935,478 | A/G | — | uncertain significance |
| rs1233421689 | 3:46,935,519 | G/A | — | likely benign |
| rs724450 | 3:46,935,527 | T/G | — | benign |
| rs724449 | 3:46,935,681 | C/T | — | benign |
| rs724448 | 3:46,935,734 | A/C | — | benign |
| rs75639205 | 3:46,936,574 | C/A | — | — |
| rs187585108 | 3:46,937,228 | G/A | — | conflicting classifications of pathogenicity |
| rs199821001 | 3:46,937,249 | G/A | — | uncertain significance |
| rs572975854 | 3:46,937,261 | C/T | — | uncertain significance |
| rs116789130 | 3:46,937,262 | G/A | — | likely benign |
| rs149655894 | 3:46,937,268 | A/G | — | likely benign |
| rs148414587 | 3:46,937,272 | G/C | — | conflicting classifications of pathogenicity |
| rs773342944 | 3:46,937,312 | C/G | — | uncertain significance |
| rs935142392 | 3:46,937,325 | G/A | — | likely benign |
| rs1366330183 | 3:46,937,329 | A/G | — | uncertain significance |
| rs41290646 | 3:46,937,345 | G/A | — | likely benign |
| rs121434604 | 3:46,937,356 | C/T | stop gained | pathogenic |
| rs199875878 | 3:46,937,357 | G/A | — | conflicting classifications of pathogenicity |
| rs1274085501 | 3:46,937,362 | A/T | — | uncertain significance |
| rs200207404 | 3:46,937,363 | C/T | — | conflicting classifications of pathogenicity |
| rs113566258 | 3:46,937,391 | A/G | — | likely benign |
| rs41290648 | 3:46,939,136 | G/A | — | benign |
| rs2385863 | 3:46,939,186 | C/A | — | benign |
| rs1375023507 | 3:46,939,327 | G/C | — | likely benign |
| rs387907461 | 3:46,939,347 | C/T | — | likely benign |
| rs2031845064 | 3:46,939,360 | C/T | — | uncertain significance |
| rs769497871 | 3:46,939,361 | G/A | — | likely benign |
| rs201576425 | 3:46,939,385 | G/C | — | uncertain significance |
| rs143692596 | 3:46,939,388 | G/A | — | likely benign |
| rs200197785 | 3:46,939,395 | G/A | — | uncertain significance |
| rs138339848 | 3:46,939,406 | G/A | — | likely benign |
| rs2545036867 | 3:46,939,410 | G/A | — | uncertain significance |
| rs1161896201 | 3:46,939,411 | T/A | — | uncertain significance |
| rs199707422 | 3:46,939,420 | C/T | — | uncertain significance |
| rs121434599 | 3:46,939,426 | C/G | missense variant | uncertain significance |
| rs758790982 | 3:46,939,427 | G/A | — | likely benign |
| rs1575520937 | 3:46,939,432 | A/C | — | uncertain significance |
| rs2031851380 | 3:46,939,439 | T/C | — | uncertain significance |
| rs2031851520 | 3:46,939,447 | A/G | — | uncertain significance |
| rs957491176 | 3:46,939,472 | G/A | — | likely benign |
| rs1033299374 | 3:46,939,546 | C/G | — | uncertain significance |
| rs2031859563 | 3:46,939,552 | A/G | — | likely benign |
| rs199757346 | 3:46,939,564 | G/A | — | uncertain significance |
| rs2545037380 | 3:46,939,572 | T/A | — | uncertain significance |
| rs143863124 | 3:46,939,575 | C/A | — | likely benign |
| rs1323321129 | 3:46,939,578 | C/T | — | uncertain significance |
| rs576428067 | 3:46,939,579 | G/A | — | uncertain significance |
| rs121434601 | 3:46,939,587 | C/T | missense variant | likely benign |
| rs73067029 | 3:46,939,588 | G/A | — | conflicting classifications of pathogenicity |
| rs775221880 | 3:46,939,595 | C/T | — | likely benign |
| rs121434605 | 3:46,939,602 | G/T | stop gained | pathogenic |
| rs762939698 | 3:46,939,612 | C/G | — | uncertain significance |
| rs774308227 | 3:46,939,627 | C/T | — | uncertain significance |
| rs2545037604 | 3:46,939,641 | A/G | — | uncertain significance |
| rs749928840 | 3:46,939,663 | C/G | — | uncertain significance |
| rs387907457 | 3:46,939,665 | A/T | — | uncertain significance |
| rs139017205 | 3:46,939,666 | A/G | — | uncertain significance |
| rs746792584 | 3:46,939,671 | A/G | — | uncertain significance |
| rs768504854 | 3:46,939,675 | G/T | — | uncertain significance |
| rs202145297 | 3:46,939,680 | C/T | — | uncertain significance |
| rs374782548 | 3:46,939,681 | G/A | — | uncertain significance |
| rs2107035467 | 3:46,939,683 | G/A | — | pathogenic |
| rs199829955 | 3:46,939,686 | C/T | — | uncertain significance |
| rs114449768 | 3:46,939,696 | T/C | — | benign |
| rs200489970 | 3:46,939,854 | C/T | — | likely benign |
| rs747466209 | 3:46,939,857 | G/A | — | likely benign |
| rs200610441 | 3:46,939,873 | G/A | — | likely benign |
| rs2545038484 | 3:46,939,877 | G/A | — | uncertain significance |
| rs201499146 | 3:46,939,881 | G/A | — | uncertain significance |
| rs1183865891 | 3:46,939,900 | C/T | — | likely benign |
| rs746024256 | 3:46,939,910 | T/G | — | uncertain significance |
Showing 100 of 297 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.