PHLDB1
pleckstrin homology like domain family B member 1
Summary
Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in basal cortex. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs498872 | 11:118,477,367 | A/C | — | — |
| rs150262318 | 11:118,477,426 | G/T | downstream gene variant | — |
| rs181810165 | 11:118,485,294 | C/G | — | uncertain significance |
| rs2498180803 | 11:118,485,331 | C/G | — | uncertain significance |
| rs782773220 | 11:118,485,386 | C/T | — | uncertain significance |
| rs11603023 | 11:118,486,067 | T/C | regulatory region variant | — |
| rs45540840 | 11:118,486,110 | G/A | regulatory region variant | — |
| rs367933668 | 11:118,486,779 | G/C | — | uncertain significance |
| rs781950950 | 11:118,486,842 | C/T | — | uncertain significance |
| rs148436342 | 11:118,486,899 | G/C | — | uncertain significance |
| rs782508862 | 11:118,486,914 | C/T | — | uncertain significance |
| rs782655710 | 11:118,486,915 | G/A | — | uncertain significance |
| rs10892247 | 11:118,490,076 | G/A | regulatory region variant | — |
| rs143792199 | 11:118,491,162 | G/A | intron variant | — |
| rs77683570 | 11:118,495,287 | T/C | intron variant | — |
| rs781783643 | 11:118,498,056 | C/T | — | uncertain significance |
| rs1565426764 | 11:118,498,155 | C/A | — | uncertain significance |
| rs1179408280 | 11:118,498,160 | G/C | — | uncertain significance |
| rs145612611 | 11:118,498,249 | C/G | — | uncertain significance |
| rs201281930 | 11:118,498,383 | C/T | — | uncertain significance |
| rs564595248 | 11:118,498,402 | G/A | — | uncertain significance |
| rs782087071 | 11:118,498,432 | C/T | — | uncertain significance |
| rs782069939 | 11:118,498,450 | G/A | — | uncertain significance |
| rs145699167 | 11:118,498,459 | G/A | — | uncertain significance |
| rs142810257 | 11:118,498,522 | G/A | — | uncertain significance |
| rs1555104200 | 11:118,498,530 | C/G | — | uncertain significance |
| rs782582897 | 11:118,498,570 | G/A | — | uncertain significance |
| rs146028056 | 11:118,498,729 | C/G | — | uncertain significance |
| rs1944169181 | 11:118,498,771 | G/A | — | uncertain significance |
| rs150763818 | 11:118,498,882 | G/A | — | uncertain significance |
| rs145090703 | 11:118,498,885 | G/A | — | uncertain significance |
| rs782256423 | 11:118,498,903 | G/A | — | uncertain significance |
| rs781967890 | 11:118,498,915 | C/T | — | uncertain significance |
| rs140294013 | 11:118,498,936 | G/A | — | uncertain significance |
| rs145400565 | 11:118,498,951 | C/T | — | uncertain significance |
| rs151289321 | 11:118,499,077 | G/A | — | likely benign |
| rs543832494 | 11:118,499,152 | T/A | — | uncertain significance |
| rs782347426 | 11:118,499,263 | G/A | — | uncertain significance |
| rs782062587 | 11:118,499,287 | G/A | — | uncertain significance |
| rs150200350 | 11:118,499,300 | C/T | — | likely benign |
| rs782388138 | 11:118,499,343 | C/T | — | uncertain significance |
| rs782587906 | 11:118,502,001 | G/C | — | uncertain significance |
| rs534520871 | 11:118,502,077 | T/G | — | uncertain significance |
| rs375882353 | 11:118,502,117 | G/A | — | uncertain significance |
| rs782752127 | 11:118,502,181 | G/C | — | uncertain significance |
| rs1944884852 | 11:118,502,666 | G/T | — | uncertain significance |
| rs1413972468 | 11:118,502,720 | A/C | — | uncertain significance |
| rs747444455 | 11:118,502,729 | G/A | — | uncertain significance |
| rs782576855 | 11:118,502,762 | G/A | — | uncertain significance |
| rs369630236 | 11:118,502,766 | G/A | — | uncertain significance |
| rs562882526 | 11:118,502,964 | A/G | — | uncertain significance |
| rs34608961 | 11:118,509,659 | C/T | — | likely benign |
| rs2298484 | 11:118,509,676 | G/A | — | uncertain significance |
| rs113313560 | 11:118,509,741 | C/T | downstream gene variant | — |
| rs2499820052 | 11:118,512,973 | T/C | — | uncertain significance |
| rs2499820307 | 11:118,512,976 | A/C | — | uncertain significance |
| rs912276076 | 11:118,512,987 | C/T | — | uncertain significance |
| rs2499828722 | 11:118,513,072 | C/T | — | uncertain significance |
| rs782681090 | 11:118,513,101 | C/T | — | uncertain significance |
| rs2499903314 | 11:118,514,537 | A/G | — | uncertain significance |
| rs374599436 | 11:118,514,542 | G/A | — | uncertain significance |
| rs145786415 | 11:118,514,575 | G/A | — | uncertain significance |
| rs11216938 | 11:118,514,625 | C/T | synonymous variant | — |
| rs143675309 | 11:118,514,830 | G/A | — | uncertain significance |
| rs749012684 | 11:118,516,097 | C/T | — | uncertain significance |
| rs201773911 | 11:118,516,098 | G/A | — | uncertain significance |
| rs781881119 | 11:118,516,101 | G/A | — | uncertain significance |
| rs368998294 | 11:118,516,194 | C/T | — | uncertain significance |
| rs149914355 | 11:118,516,274 | G/A | — | likely benign |
| rs569497108 | 11:118,516,292 | C/A | — | uncertain significance |
| rs782532095 | 11:118,516,319 | A/G | — | uncertain significance |
| rs141290505 | 11:118,516,341 | C/T | — | uncertain significance |
| rs187523265 | 11:118,516,932 | C/T | intron variant | — |
| rs142425946 | 11:118,518,691 | C/T | — | uncertain significance |
| rs1194257386 | 11:118,518,692 | G/A | — | uncertain significance |
| rs782373822 | 11:118,518,697 | C/T | — | uncertain significance |
| rs497554 | 11:118,518,712 | C/T | — | uncertain significance |
| rs200365981 | 11:118,518,736 | C/T | — | uncertain significance |
| rs117947426 | 11:118,518,753 | T/C | — | benign |
| rs202013831 | 11:118,518,797 | A/G | — | likely benign |
| rs782338322 | 11:118,520,812 | C/T | — | uncertain significance |
| rs200684210 | 11:118,520,870 | C/T | — | uncertain significance |
| rs782135174 | 11:118,521,222 | C/T | — | uncertain significance |
| rs148871740 | 11:118,526,583 | G/A | — | likely benign |
| rs782155833 | 11:118,527,394 | G/C | — | uncertain significance |
| rs2500794778 | 11:118,527,417 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.