PLCH1
phospholipase C eta 1
Summary
PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
Known Variants113 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs552068451 | 3:155,198,839 | T/C | — | uncertain significance |
| rs777162193 | 3:155,198,854 | T/A | — | uncertain significance |
| rs199636539 | 3:155,198,893 | C/A | — | uncertain significance |
| rs777105013 | 3:155,198,909 | C/T | — | uncertain significance |
| rs200586305 | 3:155,198,914 | G/A | — | uncertain significance |
| rs142695210 | 3:155,198,933 | C/T | — | uncertain significance |
| rs556391297 | 3:155,198,934 | G/C | — | uncertain significance |
| rs367678099 | 3:155,198,945 | C/T | — | uncertain significance |
| rs148331765 | 3:155,198,984 | G/T | — | benign |
| rs200679519 | 3:155,199,079 | C/T | — | uncertain significance |
| rs543554708 | 3:155,199,082 | A/G | — | uncertain significance |
| rs769610672 | 3:155,199,124 | C/T | — | uncertain significance |
| rs200003285 | 3:155,199,155 | A/G | — | uncertain significance |
| rs779526320 | 3:155,199,199 | C/T | — | uncertain significance |
| rs1233785477 | 3:155,199,248 | C/T | — | uncertain significance |
| rs1417236936 | 3:155,199,275 | C/T | — | uncertain significance |
| rs750889877 | 3:155,199,442 | T/G | — | uncertain significance |
| rs780232020 | 3:155,199,454 | T/G | — | uncertain significance |
| rs376663359 | 3:155,199,474 | G/C | — | uncertain significance |
| rs1452538681 | 3:155,199,491 | A/C | — | uncertain significance |
| rs2473525418 | 3:155,199,563 | C/G | — | uncertain significance |
| rs752822832 | 3:155,199,596 | G/A | — | uncertain significance |
| rs201955228 | 3:155,199,599 | G/A | — | uncertain significance |
| rs746877061 | 3:155,199,733 | A/G | — | uncertain significance |
| rs2473529352 | 3:155,199,793 | G/A | — | uncertain significance |
| rs757497787 | 3:155,199,844 | C/A | — | uncertain significance |
| rs377451566 | 3:155,199,905 | G/A | — | uncertain significance |
| rs765650984 | 3:155,199,931 | T/C | — | uncertain significance |
| rs146057173 | 3:155,199,945 | C/T | — | likely benign |
| rs376193266 | 3:155,199,946 | G/A | — | uncertain significance |
| rs1219586810 | 3:155,199,972 | A/T | — | uncertain significance |
| rs115360115 | 3:155,199,975 | A/G | — | likely benign |
| rs377417850 | 3:155,200,015 | T/C | — | likely benign |
| rs187476467 | 3:155,200,072 | G/A | — | uncertain significance |
| rs2473536120 | 3:155,200,130 | G/A | — | uncertain significance |
| rs549895128 | 3:155,200,177 | C/T | — | uncertain significance |
| rs138591416 | 3:155,200,240 | A/G | — | uncertain significance |
| rs768535202 | 3:155,200,264 | G/A | — | uncertain significance |
| rs566288633 | 3:155,200,317 | C/G | — | likely benign |
| rs114191912 | 3:155,200,344 | G/T | — | benign |
| rs2473540545 | 3:155,200,355 | C/G | — | uncertain significance |
| rs758616158 | 3:155,200,421 | C/A | — | uncertain significance |
| rs142805530 | 3:155,200,461 | G/A | — | likely benign |
| rs78831576 | 3:155,200,502 | G/A | — | benign |
| rs755249923 | 3:155,200,556 | C/T | — | uncertain significance |
| rs778765300 | 3:155,200,565 | G/T | — | uncertain significance |
| rs1714380191 | 3:155,200,567 | G/A | — | uncertain significance |
| rs1484661938 | 3:155,200,660 | C/T | — | uncertain significance |
| rs756981142 | 3:155,200,691 | A/C | — | uncertain significance |
| rs372740323 | 3:155,200,692 | C/T | — | uncertain significance |
| rs770242577 | 3:155,200,753 | G/A | — | uncertain significance |
| rs2473548324 | 3:155,200,800 | T/C | — | uncertain significance |
| rs148423568 | 3:155,203,150 | G/A | — | uncertain significance |
| rs1464979467 | 3:155,203,279 | C/T | — | uncertain significance |
| rs2473573869 | 3:155,203,303 | G/T | — | uncertain significance |
| rs748307014 | 3:155,203,418 | G/A | — | uncertain significance |
| rs73011560 | 3:155,203,960 | T/A | — | benign |
| rs2473609331 | 3:155,206,453 | C/G | — | likely benign |
| rs767123771 | 3:155,206,509 | C/T | — | uncertain significance |
| rs578224113 | 3:155,206,524 | G/A | — | uncertain significance |
| rs368326876 | 3:155,208,591 | G/A | — | uncertain significance |
| rs2473625893 | 3:155,208,653 | A/G | — | uncertain significance |
| rs757653002 | 3:155,212,011 | G/A | — | pathogenic |
| rs573550065 | 3:155,212,150 | T/G | — | uncertain significance |
| rs377390398 | 3:155,212,220 | G/T | — | uncertain significance |
| rs761428068 | 3:155,212,301 | T/C | — | uncertain significance |
| rs964253024 | 3:155,218,537 | T/C | — | uncertain significance |
| rs748790113 | 3:155,218,561 | T/C | — | uncertain significance |
| rs773887107 | 3:155,218,568 | G/A | — | uncertain significance |
| rs113740821 | 3:155,218,588 | C/T | — | benign |
| rs375773648 | 3:155,222,367 | T/G | — | uncertain significance |
| rs149590749 | 3:155,222,375 | C/T | — | uncertain significance |
| rs374422972 | 3:155,222,386 | T/G | — | uncertain significance |
| rs144535995 | 3:155,222,394 | C/T | — | uncertain significance |
| rs758114247 | 3:155,222,415 | T/A | — | uncertain significance |
| rs138319759 | 3:155,232,543 | G/A | — | uncertain significance |
| rs776542253 | 3:155,232,561 | C/T | — | uncertain significance |
| rs2473834492 | 3:155,232,591 | T/C | — | uncertain significance |
| rs148006396 | 3:155,232,649 | C/T | — | uncertain significance |
| rs2473916100 | 3:155,241,693 | A/G | — | uncertain significance |
| rs181696 | 3:155,266,104 | T/C | regulatory region variant | — |
| rs3851357 | 3:155,267,440 | G/T | — | — |
| rs767111170 | 3:155,267,716 | A/G | — | uncertain significance |
| rs1178799599 | 3:155,271,940 | C/G | — | uncertain significance |
| rs2474158106 | 3:155,271,968 | G/C | — | uncertain significance |
| rs2474232070 | 3:155,282,736 | C/G | — | uncertain significance |
| rs139032779 | 3:155,282,737 | G/A | — | uncertain significance |
| rs144809004 | 3:155,282,778 | C/G | — | uncertain significance |
| rs375430287 | 3:155,282,809 | T/C | — | uncertain significance |
| rs142570819 | 3:155,282,830 | G/C | — | uncertain significance |
| rs756793470 | 3:155,282,833 | C/A | — | uncertain significance |
| rs147237259 | 3:155,282,892 | A/G | — | uncertain significance |
| rs144652454 | 3:155,286,097 | G/A | — | uncertain significance |
| rs2474376510 | 3:155,303,877 | T/C | — | uncertain significance |
| rs775027679 | 3:155,303,879 | C/T | — | uncertain significance |
| rs1577072950 | 3:155,303,914 | A/T | — | uncertain significance |
| rs1267598166 | 3:155,303,940 | C/G | — | uncertain significance |
| rs766547445 | 3:155,303,941 | G/A | — | likely benign |
| rs530518586 | 3:155,311,758 | G/A | — | uncertain significance |
| rs2474432742 | 3:155,311,799 | C/T | — | uncertain significance |
Showing 100 of 113 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.