PLA2G7
phospholipase A2 group VII
Summary
The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201219473 | 6:46,672,339 | G/A | — | likely benign |
| rs140268311 | 6:46,672,346 | T/C | — | uncertain significance |
| rs137883169 | 6:46,672,394 | T/C | — | uncertain significance |
| rs1051931 | 6:46,672,943 | A/G | missense variant | benign |
| rs202073418 | 6:46,673,012 | T/C | — | uncertain significance |
| rs200015160 | 6:46,673,013 | C/A | — | uncertain significance |
| rs373678655 | 6:46,673,055 | C/T | — | likely benign |
| rs7756935 | 6:46,675,025 | C/A | downstream gene variant | — |
| rs1764893978 | 6:46,675,893 | C/A | — | uncertain significance |
| rs757871876 | 6:46,675,900 | T/C | — | uncertain significance |
| rs76863441 | 6:46,677,098 | C/A | missense variant | pathogenic |
| rs2532688089 | 6:46,677,136 | T/C | — | uncertain significance |
| rs1764936381 | 6:46,677,139 | T/C | — | uncertain significance |
| rs770200630 | 6:46,677,146 | C/T | — | uncertain significance |
| rs144067869 | 6:46,677,170 | A/G | intron variant | — |
| rs2532691074 | 6:46,678,266 | A/G | — | uncertain significance |
| rs200351797 | 6:46,678,285 | C/T | — | likely benign |
| rs1582566166 | 6:46,678,363 | A/G | — | likely benign |
| rs200338780 | 6:46,678,373 | C/T | — | uncertain significance |
| rs201615539 | 6:46,678,382 | G/C | — | uncertain significance |
| rs140695465 | 6:46,678,391 | C/T | — | likely benign |
| rs200057649 | 6:46,678,392 | G/A | — | uncertain significance |
| rs201899866 | 6:46,679,232 | C/T | splice region variant | pathogenic |
| rs139384606 | 6:46,679,262 | C/T | — | uncertain significance |
| rs150039037 | 6:46,679,283 | A/G | — | uncertain significance |
| rs764317876 | 6:46,679,301 | C/T | — | uncertain significance |
| rs1805018 | 6:46,679,303 | A/G | missense variant | benign |
| rs45454695 | 6:46,679,323 | C/G | — | benign |
| rs776675107 | 6:46,680,024 | A/G | — | uncertain significance |
| rs548182444 | 6:46,680,033 | C/T | — | uncertain significance |
| rs183702131 | 6:46,680,070 | G/T | — | likely benign |
| rs1362931 | 6:46,682,079 | A/C | intron variant | — |
| rs1420368113 | 6:46,682,196 | C/T | — | likely pathogenic |
| rs1765132619 | 6:46,682,201 | A/C | — | uncertain significance |
| rs370831021 | 6:46,682,233 | G/A | — | uncertain significance |
| rs776037198 | 6:46,682,234 | G/A | — | uncertain significance |
| rs200276421 | 6:46,682,245 | C/T | — | uncertain significance |
| rs202150463 | 6:46,682,257 | G/A | — | uncertain significance |
| rs200454121 | 6:46,682,265 | C/T | — | uncertain significance |
| rs763882543 | 6:46,684,127 | G/A | — | likely benign |
| rs936641315 | 6:46,684,140 | G/T | — | likely benign |
| rs143012249 | 6:46,684,168 | A/G | — | uncertain significance |
| rs1805017 | 6:46,684,222 | C/T | missense variant | benign |
| rs368234407 | 6:46,684,246 | T/C | — | uncertain significance |
| rs1005751871 | 6:46,684,721 | G/A | — | likely benign |
| rs767724546 | 6:46,684,750 | C/T | — | uncertain significance |
| rs145315433 | 6:46,684,792 | A/T | — | likely benign |
| rs148597063 | 6:46,684,817 | T/C | — | uncertain significance |
| rs574476364 | 6:46,685,732 | C/T | — | — |
| rs142974898 | 6:46,690,518 | A/G | — | likely pathogenic |
| rs771835710 | 6:46,690,534 | T/C | — | uncertain significance |
| rs199683608 | 6:46,690,590 | G/A | — | likely benign |
| rs375665450 | 6:46,690,625 | C/T | — | uncertain significance |
| rs9395208 | 6:46,703,319 | G/C | regulatory region variant | — |
| rs13210554 | 6:46,704,339 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.