PGS1
phosphatidylglycerophosphate synthase 1
Summary
Predicted to enable CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity and calcium ion binding activity. Predicted to be involved in cardiolipin biosynthetic process and diacylglycerol metabolic process. Located in endoplasmic reticulum. Is active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs772915503 | 17:76,374,750 | G/A | — | uncertain significance |
| rs553284568 | 17:76,374,760 | C/A | — | uncertain significance |
| rs780488306 | 17:76,374,783 | T/C | — | uncertain significance |
| rs540407963 | 17:76,374,855 | C/T | — | uncertain significance |
| rs368468919 | 17:76,374,886 | G/T | — | uncertain significance |
| rs4082919 | 17:76,377,482 | T/C | — | — |
| rs938348 | 17:76,381,021 | C/A | — | — |
| rs12452576 | 17:76,386,037 | A/G | — | — |
| rs8077859 | 17:76,386,335 | C/T | regulatory region variant | — |
| rs7222619 | 17:76,386,406 | T/G | — | — |
| rs11657865 | 17:76,387,274 | A/T | — | — |
| rs11657987 | 17:76,387,363 | G/T | intron variant | — |
| rs12453598 | 17:76,389,164 | T/C | intron variant | — |
| rs12451109 | 17:76,389,176 | C/T | — | — |
| rs7219625 | 17:76,390,080 | C/A | — | — |
| rs1367022036 | 17:76,392,426 | C/T | — | uncertain significance |
| rs4969184 | 17:76,393,413 | G/A | upstream gene variant | — |
| rs7212201 | 17:76,393,896 | C/A | regulatory region variant | — |
| rs759702836 | 17:76,394,339 | T/C | — | uncertain significance |
| rs377492068 | 17:76,394,418 | C/A | — | uncertain significance |
| rs2292643 | 17:76,395,421 | G/A | splice region variant | — |
| rs2511119919 | 17:76,395,429 | G/C | — | uncertain significance |
| rs201673197 | 17:76,395,468 | G/A | — | likely benign |
| rs772225409 | 17:76,395,507 | C/A | — | uncertain significance |
| rs747202555 | 17:76,395,510 | C/T | — | uncertain significance |
| rs370915328 | 17:76,395,531 | G/A | — | uncertain significance |
| rs12450528 | 17:76,395,753 | G/A | regulatory region variant | — |
| rs778707693 | 17:76,396,799 | G/A | — | uncertain significance |
| rs79039614 | 17:76,396,844 | C/T | — | uncertain significance |
| rs369407632 | 17:76,396,859 | C/T | — | uncertain significance |
| rs11077363 | 17:76,397,309 | C/T | downstream gene variant | — |
| rs12451715 | 17:76,397,334 | A/G | — | — |
| rs8072632 | 17:76,397,830 | T/A | — | — |
| rs8071884 | 17:76,398,058 | C/A | — | — |
| rs55633207 | 17:76,398,130 | G/A | — | — |
| rs4969142 | 17:76,398,304 | G/T | — | — |
| rs4969186 | 17:76,398,404 | G/T | — | — |
| rs775754694 | 17:76,399,654 | C/T | — | uncertain significance |
| rs367572812 | 17:76,399,679 | A/G | — | uncertain significance |
| rs773205813 | 17:76,399,772 | A/G | — | uncertain significance |
| rs371933509 | 17:76,399,778 | C/G | — | uncertain significance |
| rs1598329160 | 17:76,399,805 | C/A | — | uncertain significance |
| rs774659363 | 17:76,399,874 | C/T | — | uncertain significance |
| rs2511151860 | 17:76,399,954 | A/G | — | uncertain significance |
| rs764621142 | 17:76,399,988 | A/G | — | uncertain significance |
| rs747275295 | 17:76,400,047 | G/T | — | uncertain significance |
| rs2511153689 | 17:76,400,140 | T/C | — | uncertain significance |
| rs1300553360 | 17:76,400,156 | C/T | — | uncertain significance |
| rs149054158 | 17:76,400,163 | C/T | — | likely benign |
| rs3744219 | 17:76,400,236 | G/A | downstream gene variant | — |
| rs12601079 | 17:76,400,329 | G/A | downstream gene variant | — |
| rs1976703 | 17:76,401,328 | C/T | — | — |
| rs2376583 | 17:76,402,105 | A/T | intron variant | — |
| rs2376584 | 17:76,402,116 | G/A | intron variant | — |
| rs4129767 | 17:76,403,984 | G/T | — | — |
| rs773663850 | 17:76,410,989 | C/G | — | uncertain significance |
| rs1249019030 | 17:76,411,042 | C/G | — | uncertain significance |
| rs372229822 | 17:76,411,070 | G/A | — | uncertain significance |
| rs1450464823 | 17:76,415,670 | C/T | — | uncertain significance |
| rs368547832 | 17:76,415,685 | C/T | — | uncertain significance |
| rs72914863 | 17:76,419,984 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.