PLEKHM1
pleckstrin homology and RUN domain containing M1
Summary
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Known Variants106 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11012 | 17:43,513,441 | C/T | upstream gene variant | — |
| rs62064655 | 17:43,514,954 | G/A | — | benign |
| rs116886592 | 17:43,515,227 | G/A | — | likely benign |
| rs372927279 | 17:43,515,236 | G/T | — | uncertain significance |
| rs1404624858 | 17:43,515,240 | T/C | — | uncertain significance |
| rs771929416 | 17:43,515,258 | C/T | — | uncertain significance |
| rs34363898 | 17:43,515,846 | C/T | upstream gene variant | — |
| rs17631303 | 17:43,516,402 | A/G | regulatory region variant | — |
| rs1317946 | 17:43,516,738 | A/C | — | benign |
| rs35591873 | 17:43,516,739 | G/A | — | benign |
| rs2050372577 | 17:43,516,847 | C/A | — | uncertain significance |
| rs200261737 | 17:43,516,880 | C/T | — | uncertain significance |
| rs73984399 | 17:43,516,989 | C/T | — | benign |
| rs62064657 | 17:43,517,054 | G/A | — | benign |
| rs35489312 | 17:43,517,252 | T/C | — | benign |
| rs117755594 | 17:43,517,732 | C/T | — | benign |
| rs34887474 | 17:43,519,564 | C/A | intron variant | — |
| rs2684641 | 17:43,520,118 | A/G | — | — |
| rs35329349 | 17:43,520,675 | T/C | — | — |
| rs369611613 | 17:43,522,858 | C/T | — | uncertain significance |
| rs759138326 | 17:43,522,996 | T/C | — | uncertain significance |
| rs941297306 | 17:43,527,985 | G/T | — | uncertain significance |
| rs770657508 | 17:43,527,988 | C/T | — | uncertain significance |
| rs1347275222 | 17:43,528,115 | T/C | — | uncertain significance |
| rs56278545 | 17:43,530,550 | G/A | — | benign |
| rs1246450817 | 17:43,530,748 | G/A | — | uncertain significance |
| rs751751709 | 17:43,530,838 | C/A | — | uncertain significance |
| rs771377709 | 17:43,530,871 | C/T | — | uncertain significance |
| rs774511845 | 17:43,530,931 | C/T | — | uncertain significance |
| rs1480821694 | 17:43,530,950 | C/G | — | uncertain significance |
| rs1455141152 | 17:43,530,969 | G/A | — | uncertain significance |
| rs2510619614 | 17:43,531,006 | T/C | — | uncertain significance |
| rs2510620232 | 17:43,531,045 | T/C | — | uncertain significance |
| rs559224144 | 17:43,531,078 | G/A | — | pathogenic |
| rs372997534 | 17:43,531,116 | T/C | — | uncertain significance |
| rs2510621652 | 17:43,531,123 | T/C | — | likely benign |
| rs748537332 | 17:43,531,260 | C/A | — | uncertain significance |
| rs2510624520 | 17:43,531,261 | C/G | — | uncertain significance |
| rs778248742 | 17:43,531,335 | C/T | — | uncertain significance |
| rs546482206 | 17:43,531,336 | G/A | — | uncertain significance |
| rs370244543 | 17:43,531,387 | C/A | — | uncertain significance |
| rs778518312 | 17:43,531,453 | G/A | — | uncertain significance |
| rs747998318 | 17:43,531,476 | C/T | — | uncertain significance |
| rs2050870635 | 17:43,531,491 | T/C | — | likely benign |
| rs200717500 | 17:43,531,531 | G/A | — | uncertain significance |
| rs148180715 | 17:43,531,534 | A/T | — | uncertain significance |
| rs372371685 | 17:43,531,579 | T/C | — | uncertain significance |
| rs150735317 | 17:43,531,582 | C/T | — | uncertain significance |
| rs2684504 | 17:43,531,926 | C/T | — | benign |
| rs531873798 | 17:43,535,552 | A/G | — | uncertain significance |
| rs571674138 | 17:43,535,639 | C/T | — | likely benign |
| rs761897823 | 17:43,535,648 | C/G | — | uncertain significance |
| rs1185006268 | 17:43,535,655 | T/C | — | uncertain significance |
| rs2510657754 | 17:43,535,741 | C/T | — | uncertain significance |
| rs144621291 | 17:43,535,766 | G/T | — | uncertain significance |
| rs2510658547 | 17:43,535,787 | A/C | — | uncertain significance |
| rs4588023 | 17:43,535,952 | C/T | — | benign |
| rs56005713 | 17:43,536,743 | C/G | — | — |
| rs111423688 | 17:43,538,523 | G/A | intron variant | — |
| rs1971631 | 17:43,539,437 | C/G | regulatory region variant | — |
| rs62065396 | 17:43,543,207 | T/C | — | — |
| rs73307530 | 17:43,545,300 | C/T | — | benign |
| rs2510694782 | 17:43,545,598 | C/T | — | uncertain significance |
| rs1236634035 | 17:43,545,649 | C/T | — | uncertain significance |
| rs777977043 | 17:43,545,658 | C/T | — | uncertain significance |
| rs376513614 | 17:43,545,717 | G/T | — | uncertain significance |
| rs376947137 | 17:43,545,729 | T/A | — | uncertain significance |
| rs2510695699 | 17:43,545,738 | C/T | — | uncertain significance |
| rs575191410 | 17:43,545,822 | G/A | — | likely benign |
| rs1879581 | 17:43,545,893 | T/C | — | benign |
| rs760190921 | 17:43,545,910 | C/T | — | uncertain significance |
| rs758503270 | 17:43,545,919 | G/C | — | uncertain significance |
| rs62065399 | 17:43,546,057 | G/T | — | benign |
| rs55930887 | 17:43,548,321 | T/C | upstream gene variant | — |
| rs1256197432 | 17:43,552,468 | T/A | — | uncertain significance |
| rs182079291 | 17:43,552,479 | G/A | — | uncertain significance |
| rs1057518595 | 17:43,552,505 | C/T | — | uncertain significance |
| rs71238846 | 17:43,552,537 | G/A | — | benign |
| rs758085649 | 17:43,552,560 | C/T | — | uncertain significance |
| rs765121630 | 17:43,552,624 | G/T | — | uncertain significance |
| rs138951599 | 17:43,552,635 | G/C | — | uncertain significance |
| rs779360286 | 17:43,552,679 | G/A | — | uncertain significance |
| rs200998244 | 17:43,552,692 | C/T | — | uncertain significance |
| rs12452076 | 17:43,552,717 | G/C | — | benign |
| rs2510725901 | 17:43,552,806 | G/T | — | uncertain significance |
| rs2521859 | 17:43,552,812 | A/G | — | benign |
| rs750041184 | 17:43,552,850 | T/A | — | uncertain significance |
| rs755769254 | 17:43,552,860 | C/T | — | uncertain significance |
| rs775661332 | 17:43,552,905 | C/T | — | uncertain significance |
| rs12452273 | 17:43,552,921 | C/T | — | benign |
| rs759026894 | 17:43,552,958 | C/T | — | uncertain significance |
| rs144673713 | 17:43,552,994 | T/G | — | uncertain significance |
| rs779056350 | 17:43,553,007 | C/T | — | uncertain significance |
| rs772069486 | 17:43,553,022 | G/A | — | uncertain significance |
| rs7218394 | 17:43,553,150 | T/C | — | benign |
| rs56192752 | 17:43,555,253 | G/A | — | benign |
| rs786205055 | 17:43,555,265 | C/T | — | pathogenic |
| rs146579211 | 17:43,555,359 | C/T | — | uncertain significance |
| rs1304090710 | 17:43,555,468 | G/A | — | likely pathogenic |
| rs55925547 | 17:43,556,807 | T/C | intron variant | — |
Showing 100 of 106 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.