FDFT1
farnesyl-diphosphate farnesyltransferase 1
Summary
This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs554782077 | 8:11,652,365 | G/T | — | — |
| rs7845566 | 8:11,653,150 | T/A | — | — |
| rs145607757 | 8:11,653,890 | A/G | regulatory region variant | — |
| rs61004096 | 8:11,656,924 | C/G | — | — |
| rs536499744 | 8:11,658,800 | C/T | — | — |
| rs2645430 | 8:11,659,109 | A/T | — | — |
| rs2645429 | 8:11,660,051 | A/G | regulatory region variant | — |
| rs373697245 | 8:11,660,340 | G/A | — | likely benign |
| rs574662343 | 8:11,660,360 | C/A | — | uncertain significance |
| rs141381802 | 8:11,660,850 | G/A | — | likely benign |
| rs2252567 | 8:11,660,916 | C/T | regulatory region variant | — |
| rs140063294 | 8:11,661,222 | A/T | upstream gene variant | — |
| rs184974686 | 8:11,661,502 | T/A | upstream gene variant | — |
| rs79168801 | 8:11,663,170 | G/T | — | — |
| rs1736060 | 8:11,664,738 | C/A | — | — |
| rs2179010 | 8:11,664,818 | C/A | — | — |
| rs1736062 | 8:11,665,016 | A/T | — | — |
| rs1736070 | 8:11,665,805 | C/T | — | benign |
| rs181750463 | 8:11,666,071 | G/C | — | conflicting classifications of pathogenicity |
| rs751580960 | 8:11,666,095 | C/T | — | likely benign |
| rs186055179 | 8:11,666,124 | C/G | — | likely benign |
| rs138750911 | 8:11,666,158 | C/G | — | benign |
| rs375613987 | 8:11,666,173 | C/G | — | likely benign |
| rs1807243155 | 8:11,666,202 | G/A | — | uncertain significance |
| rs750848649 | 8:11,666,218 | G/C | — | uncertain significance |
| rs1807272164 | 8:11,666,263 | C/T | — | likely benign |
| rs558707651 | 8:11,666,313 | G/A | — | uncertain significance |
| rs768164245 | 8:11,666,319 | G/C | — | uncertain significance |
| rs771269515 | 8:11,666,323 | G/C | — | likely benign |
| rs765417792 | 8:11,666,332 | C/G | — | uncertain significance |
| rs4731 | 8:11,666,337 | A/G | — | benign |
| rs1302930082 | 8:11,666,346 | A/G | — | uncertain significance |
| rs1357196682 | 8:11,666,377 | C/T | — | likely benign |
| rs11549151 | 8:11,666,384 | C/T | — | benign |
| rs2486307146 | 8:11,667,169 | T/A | — | likely benign |
| rs8417 | 8:11,667,179 | C/T | — | benign |
| rs200217031 | 8:11,667,238 | C/G | — | likely benign |
| rs759956045 | 8:11,667,273 | A/G | — | uncertain significance |
| rs368071016 | 8:11,667,286 | T/G | — | uncertain significance |
| rs970626254 | 8:11,667,297 | C/T | — | uncertain significance |
| rs556051417 | 8:11,667,358 | C/T | — | uncertain significance |
| rs2280942 | 8:11,667,895 | C/T | regulatory region variant | — |
| rs369421349 | 8:11,679,263 | C/A | — | uncertain significance |
| rs201713766 | 8:11,679,273 | T/G | — | uncertain significance |
| rs1014712965 | 8:11,679,312 | C/A | — | uncertain significance |
| rs765240165 | 8:11,679,329 | G/A | — | uncertain significance |
| rs139354492 | 8:11,679,336 | G/A | — | likely benign |
| rs1400137203 | 8:11,679,360 | T/C | — | likely benign |
| rs545547539 | 8:11,679,378 | G/C | — | uncertain significance |
| rs189285587 | 8:11,679,445 | A/G | regulatory region variant | — |
| rs1051985405 | 8:11,683,588 | C/T | — | uncertain significance |
| rs544013339 | 8:11,683,629 | C/G | — | uncertain significance |
| rs140001524 | 8:11,683,630 | G/A | — | uncertain significance |
| rs376734953 | 8:11,683,641 | A/G | — | uncertain significance |
| rs754178776 | 8:11,683,649 | G/A | — | likely benign |
| rs904011 | 8:11,683,653 | T/C | — | benign |
| rs769523244 | 8:11,683,692 | C/G | — | uncertain significance |
| rs753034680 | 8:11,683,725 | G/T | — | uncertain significance |
| rs2645424 | 8:11,684,463 | A/C | — | — |
| rs754785762 | 8:11,687,790 | C/T | — | uncertain significance |
| rs202060379 | 8:11,687,796 | C/T | — | uncertain significance |
| rs146586993 | 8:11,687,797 | G/A | — | benign |
| rs140063318 | 8:11,687,805 | T/C | — | uncertain significance |
| rs773358438 | 8:11,687,834 | C/G | — | uncertain significance |
| rs150179680 | 8:11,687,854 | C/T | — | likely benign |
| rs756896439 | 8:11,687,860 | C/G | — | uncertain significance |
| rs1810612071 | 8:11,687,893 | A/C | — | uncertain significance |
| rs367718004 | 8:11,687,902 | T/C | — | likely benign |
| rs1293313 | 8:11,687,938 | G/C | — | benign |
| rs1810791017 | 8:11,689,046 | T/A | — | likely pathogenic |
| rs573699269 | 8:11,689,059 | T/C | — | likely benign |
| rs758172978 | 8:11,689,066 | C/A | — | uncertain significance |
| rs556178209 | 8:11,689,077 | C/G | — | likely benign |
| rs149474846 | 8:11,689,101 | A/G | — | likely benign |
| rs9205 | 8:11,689,119 | G/C | — | benign |
| rs1448891084 | 8:11,689,122 | G/A | — | uncertain significance |
| rs11250168 | 8:11,691,142 | G/T | intron variant | — |
| rs1293325 | 8:11,693,577 | G/A | intron variant | — |
| rs10903343 | 8:11,695,872 | T/C | — | benign |
| rs1811838315 | 8:11,695,917 | C/G | — | uncertain significance |
| rs79708434 | 8:11,695,931 | C/G | — | benign |
| rs1055368069 | 8:11,695,949 | T/C | — | uncertain significance |
| rs373360995 | 8:11,695,964 | G/A | — | uncertain significance |
| rs755672538 | 8:11,695,967 | C/T | — | uncertain significance |
| rs770899743 | 8:11,695,968 | G/A | — | likely benign |
| rs189378553 | 8:11,695,970 | A/G | — | likely benign |
| rs2486546060 | 8:11,695,975 | C/G | — | uncertain significance |
| rs779354465 | 8:11,696,000 | G/A | — | uncertain significance |
| rs753067078 | 8:11,696,006 | A/C | — | uncertain significance |
| rs181746559 | 8:11,696,007 | C/G | — | uncertain significance |
| rs10089896 | 8:11,696,061 | G/A | — | benign |
| rs1554531593 | 8:11,696,094 | C/G | — | uncertain significance |
| rs80310078 | 8:11,696,115 | C/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.