rs186321056

This variant is located in the JMJD1C gene.

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ClinVar annotation

Likely Benign★★★☆

3 submitters2 publications

Early myoclonic encephalopathy; not provided

About JMJD1C

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all JMJD1C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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