rs794729668
This is a variant in the MED25 gene that changes a tyrosine to an cysteine.
▶ClinVar annotation
Pathogenic
1 submitter1 publicationCongenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
View on ClinVar →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]
View all MED25 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…