TRHR
thyrotropin releasing hormone receptor
Summary
This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5772 | 8:110,098,632 | G/C | upstream gene variant | — |
| rs202086229 | 8:110,099,750 | C/T | — | benign |
| rs746725588 | 8:110,099,776 | C/T | — | uncertain significance |
| rs121917847 | 8:110,099,790 | C/T | stop gained | pathogenic |
| rs5775 | 8:110,099,864 | A/G | — | benign |
| rs908519851 | 8:110,099,892 | A/C | — | uncertain significance |
| rs754288192 | 8:110,099,973 | G/A | — | uncertain significance |
| rs1586182837 | 8:110,099,983 | C/G | — | likely pathogenic |
| rs372283317 | 8:110,100,031 | G/C | — | uncertain significance |
| rs376832262 | 8:110,100,042 | A/G | — | uncertain significance |
| rs760823717 | 8:110,100,120 | A/G | — | likely benign |
| rs771222349 | 8:110,100,133 | T/C | — | pathogenic |
| rs2536906159 | 8:110,100,173 | G/C | — | uncertain significance |
| rs150719639 | 8:110,100,230 | G/A | — | likely benign |
| rs778987369 | 8:110,100,274 | C/A | — | uncertain significance |
| rs2536906455 | 8:110,100,418 | A/C | — | uncertain significance |
| rs769220033 | 8:110,100,449 | T/C | — | likely benign |
| rs3134112 | 8:110,104,855 | A/C | — | — |
| rs16892496 | 8:110,109,851 | A/T | — | — |
| rs7821463 | 8:110,112,887 | A/T | — | — |
| rs7832552 | 8:110,115,676 | C/T | intron variant | — |
| rs12680028 | 8:110,123,183 | C/A | — | — |
| rs1811964941 | 8:110,131,415 | T/C | — | uncertain significance |
| rs750423310 | 8:110,131,512 | C/T | — | uncertain significance |
| rs147019235 | 8:110,131,553 | G/A | — | likely benign |
| rs5776 | 8:110,131,636 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.