rs113296072

This variant is located in the SETDB1 gene.

ClinVar annotation

Benign★★★
2 submitters2 publications
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About SETDB1

This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]

View all SETDB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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