PGR
progesterone receptor
Summary
This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1870019 | 11:100,901,473 | A/G | 3 prime UTR variant | — |
| rs11224561 | 11:100,905,056 | C/T | 3 prime UTR variant | — |
| rs471767 | 11:100,905,297 | G/A | 3 prime UTR variant | — |
| rs608995 | 11:100,905,733 | A/T | 3 prime UTR variant | — |
| rs484389 | 11:100,909,809 | A/G | 3 prime UTR variant | — |
| rs769064153 | 11:100,909,869 | G/T | — | uncertain significance |
| rs500760 | 11:100,909,991 | T/C | synonymous variant | — |
| rs11571252 | 11:100,912,718 | C/T | — | benign |
| rs561650 | 11:100,915,894 | T/C | intron variant | — |
| rs2496763645 | 11:100,922,189 | T/C | — | uncertain significance |
| rs1042839 | 11:100,922,202 | G/A | synonymous variant | — |
| rs578029 | 11:100,922,404 | A/C | — | — |
| rs139646398 | 11:100,933,407 | G/A | — | benign |
| rs1042838 | 11:100,933,412 | C/A | missense variant | — |
| rs11571222 | 11:100,933,439 | G/C | — | benign |
| rs660541 | 11:100,934,367 | G/T | — | — |
| rs666553 | 11:100,938,668 | C/T | intron variant | — |
| rs658286 | 11:100,942,792 | T/G | intron variant | — |
| rs503362 | 11:100,961,827 | C/G | intron variant | — |
| rs2020876 | 11:100,962,528 | G/T | — | benign |
| rs516693 | 11:100,963,743 | C/T | intron variant | — |
| rs572483 | 11:100,967,572 | T/C | intron variant | — |
| rs586143 | 11:100,968,530 | C/T | intron variant | — |
| rs543215 | 11:100,974,033 | G/A | intron variant | — |
| rs613120 | 11:100,974,278 | A/G | intron variant | — |
| rs590688 | 11:100,975,974 | C/G | intron variant | — |
| rs11224592 | 11:100,976,258 | T/A | — | — |
| rs565186 | 11:100,983,629 | T/C | intron variant | — |
| rs529359 | 11:100,993,846 | C/T | intron variant | — |
| rs481775 | 11:100,994,675 | G/A | intron variant | — |
| rs2020875 | 11:100,996,730 | A/G | — | benign |
| rs2497008361 | 11:100,996,744 | T/C | — | uncertain significance |
| rs571790430 | 11:100,996,849 | C/T | — | uncertain significance |
| rs755371333 | 11:100,998,174 | T/C | — | uncertain significance |
| rs1356687066 | 11:100,998,187 | G/A | — | uncertain significance |
| rs11571152 | 11:100,998,195 | T/G | — | benign |
| rs563794209 | 11:100,998,227 | G/A | — | likely benign |
| rs753242711 | 11:100,998,327 | C/A | — | uncertain significance |
| rs756644416 | 11:100,998,330 | G/C | — | uncertain significance |
| rs1049123163 | 11:100,998,358 | C/T | — | uncertain significance |
| rs779825187 | 11:100,998,364 | A/C | — | uncertain significance |
| rs372127017 | 11:100,998,459 | A/G | — | uncertain significance |
| rs61733409 | 11:100,998,479 | G/C | — | likely benign |
| rs773981842 | 11:100,998,497 | C/G | — | likely benign |
| rs752525568 | 11:100,998,501 | G/C | — | uncertain significance |
| rs772278936 | 11:100,998,531 | G/C | — | uncertain significance |
| rs751106946 | 11:100,998,558 | G/C | — | uncertain significance |
| rs1402730866 | 11:100,998,571 | G/C | — | uncertain significance |
| rs748524564 | 11:100,998,618 | T/G | — | uncertain significance |
| rs750403105 | 11:100,998,667 | C/T | — | uncertain significance |
| rs199751131 | 11:100,998,682 | A/C | — | uncertain significance |
| rs11571147 | 11:100,998,762 | C/G | — | benign |
| rs3740753 | 11:100,998,771 | C/G | missense variant | — |
| rs752833544 | 11:100,998,790 | C/T | — | uncertain significance |
| rs2497021082 | 11:100,998,826 | C/T | — | uncertain significance |
| rs752811872 | 11:100,998,869 | G/A | — | likely benign |
| rs889006837 | 11:100,998,939 | G/C | — | uncertain significance |
| rs962335075 | 11:100,998,961 | C/A | — | uncertain significance |
| rs776880789 | 11:100,998,972 | G/C | — | uncertain significance |
| rs1467257307 | 11:100,998,993 | T/C | — | uncertain significance |
| rs10160588 | 11:100,999,013 | T/C | — | benign |
| rs2497022745 | 11:100,999,020 | G/C | — | uncertain significance |
| rs1241953281 | 11:100,999,042 | C/G | — | uncertain significance |
| rs1052227689 | 11:100,999,111 | C/T | — | uncertain significance |
| rs200322178 | 11:100,999,140 | A/T | — | uncertain significance |
| rs753295473 | 11:100,999,162 | G/C | — | uncertain significance |
| rs10160726 | 11:100,999,190 | G/A | — | benign |
| rs759872729 | 11:100,999,240 | C/T | — | uncertain significance |
| rs36055552 | 11:100,999,241 | C/T | — | benign |
| rs201378964 | 11:100,999,253 | T/C | — | likely benign |
| rs746050263 | 11:100,999,312 | G/T | — | uncertain significance |
| rs759209199 | 11:100,999,360 | G/A | — | uncertain significance |
| rs755905259 | 11:100,999,389 | C/T | — | uncertain significance |
| rs757216170 | 11:100,999,406 | G/T | — | likely benign |
| rs745958335 | 11:100,999,417 | G/A | — | uncertain significance |
| rs11571144 | 11:100,999,443 | G/A | — | benign |
| rs773988513 | 11:100,999,470 | A/G | — | uncertain significance |
| rs751679548 | 11:100,999,543 | A/T | — | uncertain significance |
| rs147067970 | 11:100,999,579 | G/T | — | likely benign |
| rs138237815 | 11:100,999,646 | A/T | — | benign |
| rs113635284 | 11:100,999,650 | A/G | — | benign |
| rs771472590 | 11:100,999,653 | G/T | — | uncertain significance |
| rs113055487 | 11:100,999,655 | C/T | — | benign |
| rs577094242 | 11:100,999,680 | G/A | — | uncertain significance |
| rs1863007121 | 11:100,999,717 | A/G | — | uncertain significance |
| rs1025431009 | 11:100,999,773 | C/T | — | uncertain significance |
| rs10895068 | 11:101,000,214 | C/T | 5 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.