rs549136898

This variant is located in the MED25 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter2 publications

Neurodevelopmental disorder

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About MED25

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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rs549136898 (MED25) — Gene Wizard