MED25
mediator complex subunit 25
Summary
This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
Known Variants611 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7246170 | 19:50,321,510 | C/T | — | benign |
| rs968388 | 19:50,321,512 | C/G | — | benign |
| rs114843375 | 19:50,321,587 | A/G | — | benign |
| rs2514495299 | 19:50,321,600 | T/G | — | likely pathogenic |
| rs780512266 | 19:50,321,602 | G/C | — | uncertain significance |
| rs1362017240 | 19:50,321,607 | C/T | — | likely benign |
| rs1568617655 | 19:50,321,613 | C/T | — | likely benign |
| rs755457665 | 19:50,321,614 | G/C | — | uncertain significance |
| rs2123860220 | 19:50,321,618 | G/T | — | uncertain significance |
| rs980805046 | 19:50,321,621 | C/A | — | uncertain significance |
| rs1209130181 | 19:50,321,626 | C/T | — | uncertain significance |
| rs545524810 | 19:50,321,627 | G/T | — | uncertain significance |
| rs774623083 | 19:50,321,634 | G/C | — | likely benign |
| rs775449916 | 19:50,321,646 | C/T | — | likely benign |
| rs2514495522 | 19:50,321,656 | T/A | — | uncertain significance |
| rs2073953656 | 19:50,321,659 | G/A | — | uncertain significance |
| rs761471079 | 19:50,321,679 | C/T | — | likely benign |
| rs2514495580 | 19:50,321,685 | A/G | — | likely benign |
| rs61742955 | 19:50,321,691 | C/T | — | likely benign |
| rs138246339 | 19:50,321,694 | C/T | — | benign |
| rs1055260585 | 19:50,321,696 | A/G | — | uncertain significance |
| rs755369870 | 19:50,321,700 | G/A | — | likely benign |
| rs1555800954 | 19:50,321,705 | G/A | — | uncertain significance |
| rs1191519479 | 19:50,321,710 | C/A | — | uncertain significance |
| rs2073954243 | 19:50,321,712 | C/T | — | likely benign |
| rs794729668 | 19:50,321,714 | A/G | missense variant | pathogenic |
| rs749356375 | 19:50,321,715 | C/G | — | uncertain significance |
| rs771040258 | 19:50,321,721 | C/G | — | likely benign |
| rs199588409 | 19:50,321,722 | C/T | — | uncertain significance |
| rs779085896 | 19:50,321,723 | C/T | — | uncertain significance |
| rs376462101 | 19:50,321,729 | T/G | — | uncertain significance |
| rs2123860485 | 19:50,321,740 | C/T | — | likely benign |
| rs2073954636 | 19:50,321,746 | C/T | — | likely benign |
| rs761372705 | 19:50,321,749 | C/T | — | likely benign |
| rs764885639 | 19:50,321,751 | A/G | — | likely benign |
| rs372600662 | 19:50,321,752 | C/T | — | likely benign |
| rs993459564 | 19:50,321,811 | A/G | — | likely benign |
| rs1256237742 | 19:50,321,813 | T/G | — | likely benign |
| rs765934196 | 19:50,321,814 | T/C | — | likely benign |
| rs369377037 | 19:50,321,816 | C/G | — | likely benign |
| rs2073955777 | 19:50,321,817 | T/C | — | likely benign |
| rs764466098 | 19:50,321,819 | C/T | — | likely benign |
| rs199743509 | 19:50,321,822 | T/G | — | conflicting classifications of pathogenicity |
| rs758925407 | 19:50,321,823 | C/T | — | likely benign |
| rs765245928 | 19:50,321,824 | A/G | — | likely benign |
| rs750459702 | 19:50,321,825 | C/T | — | uncertain significance |
| rs2073955922 | 19:50,321,827 | G/A | — | uncertain significance |
| rs758573961 | 19:50,321,831 | T/C | — | likely benign |
| rs780112917 | 19:50,321,838 | G/T | — | uncertain significance |
| rs1600311781 | 19:50,321,843 | T/G | — | likely benign |
| rs147869920 | 19:50,321,844 | C/T | — | likely benign |
| rs77400039 | 19:50,321,858 | G/A | — | benign |
| rs1469914664 | 19:50,321,861 | C/T | — | likely benign |
| rs2073956256 | 19:50,321,863 | T/C | — | uncertain significance |
| rs773338897 | 19:50,321,867 | G/A | — | likely benign |
| rs770514045 | 19:50,321,890 | C/G | — | likely benign |
| rs1674132 | 19:50,321,981 | C/G | — | benign |
| rs1674133 | 19:50,322,100 | A/G | — | benign |
| rs1674134 | 19:50,322,111 | C/T | — | benign |
| rs768378185 | 19:50,322,409 | T/C | — | likely benign |
| rs2514497453 | 19:50,322,412 | C/G | — | likely benign |
| rs377070498 | 19:50,322,416 | C/T | — | likely benign |
| rs777821434 | 19:50,322,420 | C/T | — | likely benign |
| rs1469248647 | 19:50,322,421 | C/T | — | likely benign |
| rs1640511 | 19:50,322,422 | C/T | — | likely benign |
| rs2123862076 | 19:50,322,425 | C/T | — | likely benign |
| rs2073963607 | 19:50,322,434 | G/A | — | likely benign |
| rs770307133 | 19:50,322,437 | G/T | — | likely benign |
| rs2073963672 | 19:50,322,440 | C/A | — | likely benign |
| rs2514497519 | 19:50,322,448 | G/C | — | uncertain significance |
| rs2514497530 | 19:50,322,458 | G/A | — | likely benign |
| rs745454610 | 19:50,322,461 | C/T | — | likely benign |
| rs770196362 | 19:50,322,476 | C/T | — | likely benign |
| rs1290551836 | 19:50,322,477 | G/C | — | uncertain significance |
| rs773539397 | 19:50,322,480 | C/G | — | uncertain significance |
| rs74863643 | 19:50,322,482 | C/T | — | likely benign |
| rs1359745073 | 19:50,322,483 | G/A | — | uncertain significance |
| rs2123862187 | 19:50,322,491 | C/T | — | likely benign |
| rs143148835 | 19:50,322,495 | C/G | — | uncertain significance |
| rs2073964192 | 19:50,322,496 | A/G | — | uncertain significance |
| rs1291395600 | 19:50,322,497 | A/C | — | uncertain significance |
| rs1009581878 | 19:50,322,503 | C/T | — | likely benign |
| rs2514497667 | 19:50,322,507 | C/G | — | uncertain significance |
| rs2514497682 | 19:50,322,512 | C/T | — | likely benign |
| rs1600313252 | 19:50,322,521 | C/T | — | likely benign |
| rs549136898 | 19:50,322,523 | A/G | — | uncertain significance |
| rs1475262890 | 19:50,322,531 | G/A | — | uncertain significance |
| rs201460460 | 19:50,322,534 | A/G | — | uncertain significance |
| rs2123862294 | 19:50,322,535 | C/G | — | uncertain significance |
| rs2123862300 | 19:50,322,536 | C/G | — | likely benign |
| rs753652217 | 19:50,322,540 | C/T | — | uncertain significance |
| rs140379422 | 19:50,322,542 | C/G | — | likely benign |
| rs778775959 | 19:50,322,543 | G/A | — | uncertain significance |
| rs2514497788 | 19:50,322,560 | T/C | — | likely benign |
| rs773627830 | 19:50,322,567 | C/G | — | likely benign |
| rs2123862362 | 19:50,322,568 | A/G | — | likely benign |
| rs763308680 | 19:50,322,570 | T/G | — | likely benign |
| rs575724502 | 19:50,325,107 | G/A | — | — |
| rs574558795 | 19:50,331,690 | C/T | — | likely benign |
| rs1458825800 | 19:50,331,697 | C/T | — | likely benign |
Showing 100 of 611 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.