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

rsidPosition (GRCh37)AllelesClassClinVar
rs724617019:50,321,510C/Tbenign
rs96838819:50,321,512C/Gbenign
rs11484337519:50,321,587A/Gbenign
rs251449529919:50,321,600T/Glikely pathogenic
rs78051226619:50,321,602G/Cuncertain significance
rs136201724019:50,321,607C/Tlikely benign
rs156861765519:50,321,613C/Tlikely benign
rs75545766519:50,321,614G/Cuncertain significance
rs212386022019:50,321,618G/Tuncertain significance
rs98080504619:50,321,621C/Auncertain significance
rs120913018119:50,321,626C/Tuncertain significance
rs54552481019:50,321,627G/Tuncertain significance
rs77462308319:50,321,634G/Clikely benign
rs77544991619:50,321,646C/Tlikely benign
rs251449552219:50,321,656T/Auncertain significance
rs207395365619:50,321,659G/Auncertain significance
rs76147107919:50,321,679C/Tlikely benign
rs251449558019:50,321,685A/Glikely benign
rs6174295519:50,321,691C/Tlikely benign
rs13824633919:50,321,694C/Tbenign
rs105526058519:50,321,696A/Guncertain significance
rs75536987019:50,321,700G/Alikely benign
rs155580095419:50,321,705G/Auncertain significance
rs119151947919:50,321,710C/Auncertain significance
rs207395424319:50,321,712C/Tlikely benign
rs79472966819:50,321,714A/Gmissense variantpathogenic
rs74935637519:50,321,715C/Guncertain significance
rs77104025819:50,321,721C/Glikely benign
rs19958840919:50,321,722C/Tuncertain significance
rs77908589619:50,321,723C/Tuncertain significance
rs37646210119:50,321,729T/Guncertain significance
rs212386048519:50,321,740C/Tlikely benign
rs207395463619:50,321,746C/Tlikely benign
rs76137270519:50,321,749C/Tlikely benign
rs76488563919:50,321,751A/Glikely benign
rs37260066219:50,321,752C/Tlikely benign
rs99345956419:50,321,811A/Glikely benign
rs125623774219:50,321,813T/Glikely benign
rs76593419619:50,321,814T/Clikely benign
rs36937703719:50,321,816C/Glikely benign
rs207395577719:50,321,817T/Clikely benign
rs76446609819:50,321,819C/Tlikely benign
rs19974350919:50,321,822T/Gconflicting classifications of pathogenicity
rs75892540719:50,321,823C/Tlikely benign
rs76524592819:50,321,824A/Glikely benign
rs75045970219:50,321,825C/Tuncertain significance
rs207395592219:50,321,827G/Auncertain significance
rs75857396119:50,321,831T/Clikely benign
rs78011291719:50,321,838G/Tuncertain significance
rs160031178119:50,321,843T/Glikely benign
rs14786992019:50,321,844C/Tlikely benign
rs7740003919:50,321,858G/Abenign
rs146991466419:50,321,861C/Tlikely benign
rs207395625619:50,321,863T/Cuncertain significance
rs77333889719:50,321,867G/Alikely benign
rs77051404519:50,321,890C/Glikely benign
rs167413219:50,321,981C/Gbenign
rs167413319:50,322,100A/Gbenign
rs167413419:50,322,111C/Tbenign
rs76837818519:50,322,409T/Clikely benign
rs251449745319:50,322,412C/Glikely benign
rs37707049819:50,322,416C/Tlikely benign
rs77782143419:50,322,420C/Tlikely benign
rs146924864719:50,322,421C/Tlikely benign
rs164051119:50,322,422C/Tlikely benign
rs212386207619:50,322,425C/Tlikely benign
rs207396360719:50,322,434G/Alikely benign
rs77030713319:50,322,437G/Tlikely benign
rs207396367219:50,322,440C/Alikely benign
rs251449751919:50,322,448G/Cuncertain significance
rs251449753019:50,322,458G/Alikely benign
rs74545461019:50,322,461C/Tlikely benign
rs77019636219:50,322,476C/Tlikely benign
rs129055183619:50,322,477G/Cuncertain significance
rs77353939719:50,322,480C/Guncertain significance
rs7486364319:50,322,482C/Tlikely benign
rs135974507319:50,322,483G/Auncertain significance
rs212386218719:50,322,491C/Tlikely benign
rs14314883519:50,322,495C/Guncertain significance
rs207396419219:50,322,496A/Guncertain significance
rs129139560019:50,322,497A/Cuncertain significance
rs100958187819:50,322,503C/Tlikely benign
rs251449766719:50,322,507C/Guncertain significance
rs251449768219:50,322,512C/Tlikely benign
rs160031325219:50,322,521C/Tlikely benign
rs54913689819:50,322,523A/Guncertain significance
rs147526289019:50,322,531G/Auncertain significance
rs20146046019:50,322,534A/Guncertain significance
rs212386229419:50,322,535C/Guncertain significance
rs212386230019:50,322,536C/Glikely benign
rs75365221719:50,322,540C/Tuncertain significance
rs14037942219:50,322,542C/Glikely benign
rs77877595919:50,322,543G/Auncertain significance
rs251449778819:50,322,560T/Clikely benign
rs77362783019:50,322,567C/Glikely benign
rs212386236219:50,322,568A/Glikely benign
rs76330868019:50,322,570T/Glikely benign
rs57572450219:50,325,107G/A
rs57455879519:50,331,690C/Tlikely benign
rs145882580019:50,331,697C/Tlikely benign

Showing 100 of 611 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.