PLCD1
phospholipase C delta 1
Summary
This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Known Variants132 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1435734980 | 3:38,049,556 | T/G | — | uncertain significance |
| rs1396446053 | 3:38,049,562 | A/T | — | uncertain significance |
| rs202132647 | 3:38,049,633 | G/A | — | uncertain significance |
| rs2470972029 | 3:38,049,646 | G/A | — | uncertain significance |
| rs760117251 | 3:38,049,748 | C/G | — | uncertain significance |
| rs139342994 | 3:38,049,752 | C/T | — | uncertain significance |
| rs752980022 | 3:38,049,753 | G/A | — | uncertain significance |
| rs753919171 | 3:38,049,771 | T/C | — | likely benign |
| rs201309428 | 3:38,049,813 | A/C | — | uncertain significance |
| rs182803730 | 3:38,049,821 | T/C | — | likely benign |
| rs1575344835 | 3:38,049,847 | C/T | — | likely benign |
| rs773349864 | 3:38,049,957 | T/G | — | uncertain significance |
| rs762886954 | 3:38,049,962 | C/T | — | uncertain significance |
| rs766472434 | 3:38,049,963 | G/A | — | uncertain significance |
| rs1181688920 | 3:38,049,972 | C/A | — | uncertain significance |
| rs2230477 | 3:38,049,997 | G/A | — | benign |
| rs769126654 | 3:38,050,002 | G/A | — | likely benign |
| rs115653853 | 3:38,050,015 | G/T | — | uncertain significance |
| rs377720403 | 3:38,050,035 | C/T | — | uncertain significance |
| rs369003040 | 3:38,050,062 | C/T | — | uncertain significance |
| rs917921060 | 3:38,050,113 | G/A | — | pathogenic |
| rs1575345323 | 3:38,050,132 | A/G | — | likely benign |
| rs113213588 | 3:38,050,159 | G/A | — | benign |
| rs73060833 | 3:38,050,313 | G/C | — | benign |
| rs144157044 | 3:38,050,564 | G/A | — | likely benign |
| rs1230786598 | 3:38,050,569 | T/C | — | uncertain significance |
| rs375683615 | 3:38,050,599 | C/T | missense variant | pathogenic |
| rs1050868 | 3:38,050,606 | G/A | — | likely benign |
| rs113896726 | 3:38,050,612 | G/A | — | likely benign |
| rs963953979 | 3:38,050,618 | G/A | — | likely benign |
| rs746217837 | 3:38,050,626 | C/T | — | uncertain significance |
| rs146435554 | 3:38,050,627 | G/A | — | likely benign |
| rs73060835 | 3:38,050,691 | G/A | — | benign |
| rs201094715 | 3:38,050,781 | G/A | — | pathogenic |
| rs115787371 | 3:38,050,815 | G/A | — | likely benign |
| rs141618224 | 3:38,050,816 | T/C | — | uncertain significance |
| rs746720554 | 3:38,050,831 | G/C | — | uncertain significance |
| rs1700029593 | 3:38,050,861 | T/G | — | uncertain significance |
| rs573596122 | 3:38,050,873 | C/G | — | uncertain significance |
| rs1218361670 | 3:38,050,907 | G/T | — | uncertain significance |
| rs202219212 | 3:38,051,149 | G/T | — | uncertain significance |
| rs545143851 | 3:38,051,163 | C/T | — | uncertain significance |
| rs2125543715 | 3:38,051,193 | G/C | — | uncertain significance |
| rs79082624 | 3:38,051,207 | G/A | — | benign |
| rs75495843 | 3:38,051,211 | A/G | — | benign |
| rs1700037471 | 3:38,051,241 | C/T | — | uncertain significance |
| rs1283977200 | 3:38,051,248 | G/A | — | uncertain significance |
| rs376209120 | 3:38,051,276 | C/A | — | uncertain significance |
| rs200255245 | 3:38,051,432 | G/C | — | uncertain significance |
| rs397514470 | 3:38,051,436 | G/A | stop gained | pathogenic |
| rs137913999 | 3:38,051,474 | C/T | — | uncertain significance |
| rs749914407 | 3:38,051,475 | G/A | — | uncertain significance |
| rs1045705934 | 3:38,051,477 | G/A | — | uncertain significance |
| rs149467855 | 3:38,051,484 | C/T | — | uncertain significance |
| rs201532796 | 3:38,051,543 | G/A | — | uncertain significance |
| rs2470977221 | 3:38,051,544 | C/T | — | uncertain significance |
| rs2470977363 | 3:38,051,617 | C/G | — | uncertain significance |
| rs2470977409 | 3:38,051,641 | A/G | — | uncertain significance |
| rs753289346 | 3:38,051,686 | T/C | — | uncertain significance |
| rs761069395 | 3:38,051,690 | C/T | — | uncertain significance |
| rs2470977514 | 3:38,051,702 | T/C | — | likely benign |
| rs2125544142 | 3:38,051,743 | C/A | — | uncertain significance |
| rs375837446 | 3:38,051,770 | C/T | — | likely benign |
| rs200538442 | 3:38,051,771 | G/A | — | likely benign |
| rs1340615883 | 3:38,051,852 | C/T | — | likely pathogenic |
| rs1700052060 | 3:38,051,853 | G/A | — | uncertain significance |
| rs1431946593 | 3:38,051,905 | G/C | — | likely benign |
| rs9857730 | 3:38,051,941 | T/C | — | benign |
| rs9837637 | 3:38,051,949 | C/T | — | benign |
| rs78861435 | 3:38,051,967 | G/A | — | benign |
| rs752737739 | 3:38,051,969 | C/T | — | uncertain significance |
| rs1197898815 | 3:38,051,972 | T/G | — | uncertain significance |
| rs1575347694 | 3:38,051,974 | T/G | — | likely benign |
| rs150106099 | 3:38,051,988 | C/T | — | uncertain significance |
| rs751217217 | 3:38,051,995 | G/A | — | likely benign |
| rs138396052 | 3:38,052,001 | C/T | — | likely benign |
| rs147186786 | 3:38,052,041 | C/T | — | uncertain significance |
| rs200321901 | 3:38,052,047 | G/A | — | likely benign |
| rs9842880 | 3:38,052,613 | G/C | — | benign |
| rs933135 | 3:38,052,725 | C/T | — | benign |
| rs531975960 | 3:38,052,748 | C/T | — | likely benign |
| rs61757726 | 3:38,052,760 | C/T | — | benign |
| rs781534778 | 3:38,052,764 | T/G | — | uncertain significance |
| rs769966321 | 3:38,052,771 | G/C | — | uncertain significance |
| rs2470979209 | 3:38,052,789 | A/G | — | uncertain significance |
| rs760580540 | 3:38,052,791 | G/A | — | uncertain significance |
| rs61755441 | 3:38,052,804 | T/C | — | benign |
| rs373433997 | 3:38,052,809 | G/A | — | uncertain significance |
| rs752047173 | 3:38,052,829 | C/T | — | benign |
| rs138222328 | 3:38,052,837 | C/T | — | uncertain significance |
| rs116413867 | 3:38,052,845 | G/T | — | uncertain significance |
| rs765870286 | 3:38,052,863 | C/T | — | uncertain significance |
| rs752156828 | 3:38,052,864 | G/A | — | uncertain significance |
| rs1413574039 | 3:38,052,878 | T/C | — | uncertain significance |
| rs1047015250 | 3:38,052,914 | T/C | — | uncertain significance |
| rs370500334 | 3:38,052,917 | G/A | — | uncertain significance |
| rs397514471 | 3:38,052,933 | A/G | missense variant | pathogenic |
| rs371024210 | 3:38,053,037 | T/A | — | uncertain significance |
| rs1459828278 | 3:38,053,114 | A/C | — | uncertain significance |
| rs1700080233 | 3:38,053,153 | G/A | — | uncertain significance |
Showing 100 of 132 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.