CYP2C19
cytochrome P450 family 2 subfamily C member 19
Pharmacogene
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs367543002 | 10:94,762,712 | C/T | missense variant | no classification for the single variant |
| rs367543003 | 10:94,762,715 | T/C | missense variant | no classification for the single variant |
| rs1564656981 | 10:94,762,788 | A/T | missense variant | drug response |
| rs1564657013 | 10:94,762,856 | A/G | missense variant | drug response |
| rs145328984 | 10:94,775,106 | C/T | missense variant | drug response |
| rs1564660997 | 10:94,775,121 | C/T | missense variant | drug response |
| rs118203756 | 10:94,775,160 | G/C | missense variant | drug response |
| rs1288601658 | 10:94,775,185 | A/G | missense variant | drug response |
| rs17885179 | 10:94,775,423 | A/C | missense variant | — |
| rs140278421 | 10:94,780,574 | G/C | missense variant | drug response |
| rs370803989 | 10:94,780,579 | G/A | missense variant | drug response |
| rs72558186 | 10:94,781,858 | T/A | splice donor variant | drug response |
| rs56337013 | 10:94,781,858 | C/T | missense variant | drug response |
| rs375781227 | 10:94,781,944 | G/A | missense variant | drug response |
| rs138142612 | 10:94,842,861 | G/A | missense variant | drug response |
| rs118203757 | 10:94,842,879 | G/A | missense variant | no classification for the single variant |
| rs113934938 | 10:94,842,995 | G/A | missense variant | no classification for the single variant |
| rs41291556 | 10:94,845,866 | C/A | missense variant | drug response |
| rs192154563 | 10:94,852,765 | C/T | missense variant | drug response |
| rs118203759 | 10:94,852,785 | C/G | missense variant | drug response |
| rs113164681 | 10:96,520,433 | C/T | — | no classification for the single variant |
| rs111490789 | 10:96,520,443 | C/A | — | no classification for the single variant |
| rs17878739 | 10:96,521,024 | T/C | — | no classification for the single variant |
| rs3814637 | 10:96,521,045 | C/G | — | — |
| rs7902257 | 10:96,521,422 | A/A | — | drug response |
| rs12248560 | 10:96,521,657 | C/T | regulatory region variant | drug response |
| rs4986894 | 10:96,522,365 | T/C | upstream gene variant | — |
| rs367543001 | 10:96,522,450 | G/A | — | no classification for the single variant |
| rs28399504 | 10:96,522,463 | A/G | missense variant | drug response |
| rs55752064 | 10:96,522,512 | T/C | missense variant | drug response |
| rs17882687 | 10:96,522,517 | A/C | missense variant | drug response |
| rs17885098 | 10:96,522,561 | T/C | synonymous variant | benign |
| rs12773342 | 10:96,523,083 | T/C | intron variant | — |
| rs6583954 | 10:96,534,263 | C/T | coding sequence variant | — |
| rs1175482704 | 10:96,534,890 | G/A | — | uncertain significance |
| rs758114852 | 10:96,534,906 | T/A | — | uncertain significance |
| rs17878459 | 10:96,534,922 | G/A | synonymous variant | — |
| rs12769205 | 10:96,535,124 | A/G | upstream gene variant | drug response |
| rs371309036 | 10:96,535,207 | T/C | — | uncertain significance |
| rs72552267 | 10:96,535,210 | G/A | missense variant | drug response |
| rs72558184 | 10:96,535,210 | G/A | missense variant | drug response |
| rs368767518 | 10:96,535,245 | C/A | — | uncertain significance |
| rs17884712 | 10:96,535,246 | G/A | missense variant | drug response |
| rs58973490 | 10:96,535,264 | G/A | missense variant | drug response |
| rs2492771434 | 10:96,540,369 | G/A | — | uncertain significance |
| rs747232605 | 10:96,540,388 | T/G | — | uncertain significance |
| rs4986893 | 10:96,540,410 | G/A | stop gained | drug response |
| rs2492773565 | 10:96,541,579 | T/C | — | uncertain significance |
| rs1437628059 | 10:96,541,599 | A/G | — | uncertain significance |
| rs6413438 | 10:96,541,615 | C/T | missense variant | drug response |
| rs4244285 | 10:96,541,616 | G/A | splice acceptor variant | drug response |
| rs12767583 | 10:96,547,463 | C/T | intron variant | — |
| rs191991016 | 10:96,553,753 | G/T | — | — |
| rs12572085 | 10:96,571,931 | C/A | — | — |
| rs112082007 | 10:96,574,255 | C/T | — | — |
| rs113225663 | 10:96,574,699 | C/G | — | — |
| rs2492837992 | 10:96,580,343 | A/C | — | uncertain significance |
| rs115249611 | 10:96,582,674 | A/T | — | — |
| rs11188087 | 10:96,587,289 | G/A | intron variant | — |
| rs199562446 | 10:96,587,751 | C/T | — | — |
| rs181597776 | 10:96,596,152 | T/G | intron variant | — |
| rs28399513 | 10:96,602,398 | T/A | intron variant | — |
| rs3758580 | 10:96,602,622 | C/A | synonymous variant | — |
| rs3758581 | 10:96,602,623 | G/A | missense variant | benign |
| rs17882744 | 10:96,602,691 | C/T | — | benign |
| rs371241592 | 10:96,602,699 | A/C | — | uncertain significance |
| rs1342382950 | 10:96,602,717 | T/C | — | uncertain significance |
| rs1384476546 | 10:96,602,726 | G/C | — | uncertain significance |
| rs4917623 | 10:96,609,568 | T/C | intron variant | — |
| rs935030527 | 10:96,609,697 | C/A | — | likely benign |
| rs2492894300 | 10:96,609,712 | T/A | — | uncertain significance |
| rs377184510 | 10:96,609,721 | A/G | — | no classification for the single variant |
| rs17879685 | 10:96,609,752 | C/T | missense variant | drug response |
| rs1849628801 | 10:96,609,764 | G/C | — | uncertain significance |
| rs17886522 | 10:96,609,775 | A/C | synonymous variant | benign |
| rs776970249 | 10:96,609,776 | A/G | — | uncertain significance |
| rs2492899082 | 10:96,612,607 | C/T | — | uncertain significance |
| rs55640102 | 10:96,612,671 | A/C | stop lost | drug response |
Gene information from NCBI Gene. Variant classifications from ClinVar.