PLEKHA5
pleckstrin homology domain containing A5
Summary
Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to act upstream of or within reproductive system development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs78739424 | 12:19,282,743 | G/A | — | likely benign |
| rs139525088 | 12:19,282,763 | C/T | — | likely benign |
| rs1245176951 | 12:19,282,818 | A/G | — | uncertain significance |
| rs567317913 | 12:19,283,006 | C/T | — | likely benign |
| rs954976 | 12:19,314,915 | A/T | intron variant | — |
| rs2417771 | 12:19,350,081 | G/A | intron variant | — |
| rs764672036 | 12:19,408,077 | A/G | — | uncertain significance |
| rs200644310 | 12:19,410,361 | A/G | — | benign |
| rs1204197692 | 12:19,410,376 | G/C | — | uncertain significance |
| rs2544385928 | 12:19,410,391 | C/T | — | uncertain significance |
| rs2544748511 | 12:19,418,717 | T/A | — | uncertain significance |
| rs2074003473 | 12:19,427,464 | C/T | — | uncertain significance |
| rs61755451 | 12:19,427,513 | A/G | — | benign |
| rs145682565 | 12:19,427,514 | G/A | — | likely benign |
| rs747095953 | 12:19,427,575 | A/G | — | uncertain significance |
| rs2545092971 | 12:19,427,660 | G/T | — | likely benign |
| rs569717972 | 12:19,427,737 | G/A | — | benign |
| rs76626801 | 12:19,427,764 | T/C | — | benign |
| rs77598867 | 12:19,427,766 | A/G | — | benign |
| rs751663011 | 12:19,427,794 | G/A | — | likely benign |
| rs1442631916 | 12:19,427,812 | T/C | — | uncertain significance |
| rs765143663 | 12:19,427,853 | A/G | — | uncertain significance |
| rs1434036402 | 12:19,436,255 | A/T | — | uncertain significance |
| rs139589208 | 12:19,436,376 | C/T | — | likely benign |
| rs376374589 | 12:19,436,401 | A/G | — | uncertain significance |
| rs575895771 | 12:19,436,431 | G/A | — | uncertain significance |
| rs200785429 | 12:19,436,453 | A/G | — | uncertain significance |
| rs751909689 | 12:19,436,515 | A/C | — | uncertain significance |
| rs1283763654 | 12:19,436,539 | A/T | — | uncertain significance |
| rs1270765583 | 12:19,436,545 | A/C | — | uncertain significance |
| rs770689652 | 12:19,436,560 | G/A | — | uncertain significance |
| rs1366577131 | 12:19,436,569 | G/A | — | uncertain significance |
| rs752042146 | 12:19,436,597 | G/A | — | uncertain significance |
| rs151212057 | 12:19,436,614 | G/A | — | uncertain significance |
| rs779785581 | 12:19,440,414 | A/G | — | likely pathogenic |
| rs980126152 | 12:19,440,419 | C/A | — | uncertain significance |
| rs1207443597 | 12:19,440,467 | C/A | — | uncertain significance |
| rs1592331812 | 12:19,440,482 | G/C | — | uncertain significance |
| rs2545671096 | 12:19,444,585 | T/G | — | uncertain significance |
| rs371284756 | 12:19,467,762 | A/G | — | likely benign |
| rs371732078 | 12:19,475,235 | A/G | — | likely benign |
| rs746093389 | 12:19,475,257 | G/T | — | uncertain significance |
| rs2546592616 | 12:19,475,509 | A/T | — | uncertain significance |
| rs373124862 | 12:19,475,573 | C/T | — | uncertain significance |
| rs753961661 | 12:19,475,591 | G/A | — | uncertain significance |
| rs71539465 | 12:19,475,601 | C/T | — | likely benign |
| rs202088864 | 12:19,489,470 | G/C | — | uncertain significance |
| rs2093440293 | 12:19,489,517 | G/C | — | uncertain significance |
| rs758716253 | 12:19,489,530 | G/T | — | uncertain significance |
| rs754253272 | 12:19,496,257 | A/G | — | uncertain significance |
| rs148911990 | 12:19,496,328 | G/A | — | benign |
| rs2547046212 | 12:19,496,336 | A/C | — | uncertain significance |
| rs755266693 | 12:19,496,366 | T/C | — | likely benign |
| rs138400662 | 12:19,498,778 | A/G | — | uncertain significance |
| rs371972893 | 12:19,500,060 | C/T | — | likely benign |
| rs200349314 | 12:19,500,111 | C/T | — | benign |
| rs958331700 | 12:19,506,842 | T/G | — | uncertain significance |
| rs142892135 | 12:19,506,847 | C/T | — | uncertain significance |
| rs2547289938 | 12:19,506,862 | C/A | — | uncertain significance |
| rs2547290063 | 12:19,506,866 | C/T | — | uncertain significance |
| rs368055588 | 12:19,506,917 | A/T | — | uncertain significance |
| rs2547394357 | 12:19,511,314 | C/A | — | uncertain significance |
| rs144635446 | 12:19,511,361 | G/C | — | uncertain significance |
| rs559796154 | 12:19,512,403 | C/G | — | uncertain significance |
| rs764193416 | 12:19,512,409 | C/T | — | uncertain significance |
| rs762368741 | 12:19,512,450 | C/T | — | likely benign |
| rs147625761 | 12:19,514,539 | A/G | — | likely benign |
| rs928498601 | 12:19,514,603 | A/G | — | uncertain significance |
| rs879075825 | 12:19,514,622 | C/T | — | uncertain significance |
| rs2095249086 | 12:19,514,646 | A/G | — | likely benign |
| rs142115447 | 12:19,518,899 | C/T | — | uncertain significance |
| rs748283572 | 12:19,518,920 | G/A | — | likely benign |
| rs61757729 | 12:19,518,934 | A/G | — | likely benign |
| rs748156942 | 12:19,519,001 | G/A | — | uncertain significance |
| rs2547547948 | 12:19,519,010 | C/T | — | uncertain significance |
| rs765934843 | 12:19,519,013 | G/A | — | uncertain significance |
| rs1250103304 | 12:19,522,645 | C/T | — | uncertain significance |
| rs200523362 | 12:19,522,649 | T/G | — | likely benign |
| rs763901565 | 12:19,522,657 | C/T | — | uncertain significance |
| rs746634519 | 12:19,522,689 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.