CYP3A7
cytochrome P450 family 3 subfamily A member 7
Pharmacogene
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10211 | 7:99,302,994 | C/T | 3 prime UTR variant | — |
| rs771294954 | 7:99,303,203 | G/A | — | uncertain significance |
| rs2687078 | 7:99,304,712 | C/G | — | — |
| rs537377817 | 7:99,305,487 | G/T | — | uncertain significance |
| rs762758271 | 7:99,305,523 | A/G | — | uncertain significance |
| rs2485684673 | 7:99,305,526 | C/A | — | uncertain significance |
| rs752884887 | 7:99,305,538 | C/T | — | uncertain significance |
| rs1346129738 | 7:99,305,573 | G/C | — | uncertain significance |
| rs2257401 | 7:99,306,685 | C/G | missense variant | — |
| rs375588438 | 7:99,306,757 | C/T | — | uncertain significance |
| rs2485692071 | 7:99,306,798 | C/T | — | uncertain significance |
| rs2485692321 | 7:99,306,837 | C/T | — | uncertain significance |
| rs141574193 | 7:99,306,854 | A/T | — | likely benign |
| rs918800257 | 7:99,308,437 | G/A | — | uncertain significance |
| rs1397163272 | 7:99,308,450 | T/C | — | uncertain significance |
| rs749883684 | 7:99,308,512 | A/C | — | uncertain significance |
| rs772884241 | 7:99,311,098 | G/A | — | uncertain significance |
| rs143911062 | 7:99,311,100 | G/T | — | uncertain significance |
| rs753175222 | 7:99,312,197 | C/T | — | uncertain significance |
| rs369002490 | 7:99,312,222 | A/T | — | uncertain significance |
| rs115246825 | 7:99,312,240 | T/C | — | uncertain significance |
| rs2485721661 | 7:99,312,279 | G/A | — | likely benign |
| rs149501739 | 7:99,313,393 | C/T | — | uncertain significance |
| rs767750768 | 7:99,313,398 | G/T | — | uncertain significance |
| rs144169200 | 7:99,313,444 | A/G | — | uncertain significance |
| rs777729832 | 7:99,313,476 | C/T | — | likely benign |
| rs375289012 | 7:99,314,837 | G/A | — | uncertain significance |
| rs1353163417 | 7:99,315,155 | G/A | — | likely benign |
| rs779044076 | 7:99,315,214 | C/T | — | uncertain significance |
| rs2485740126 | 7:99,315,247 | C/T | — | uncertain significance |
| rs45580339 | 7:99,319,925 | A/G | — | benign |
| rs2687137 | 7:99,324,796 | A/T | — | — |
| rs902784850 | 7:99,328,694 | C/A | — | uncertain significance |
| rs142321919 | 7:99,328,753 | G/C | — | uncertain significance |
| rs147214093 | 7:99,332,682 | C/A | — | uncertain significance |
| rs45446698 | 7:99,332,948 | T/G | upstream gene variant | — |
| rs28451617 | 7:99,735,142 | C/T | upstream gene variant | — |
| rs55798860 | 7:99,735,184 | C/T | upstream gene variant | — |
| rs11568826 | 7:99,735,355 | A/T | upstream gene variant | — |
| rs11568825 | 7:99,735,363 | A/C | upstream gene variant | — |
| rs45467892 | 7:99,735,374 | T/A | upstream gene variant | — |
| rs45575938 | 7:99,735,375 | A/G | upstream gene variant | — |
| rs45494802 | 7:99,735,377 | A/T | upstream gene variant | — |
| rs45465393 | 7:99,735,407 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.