rs756261389

This variant is located in the DNMT3A gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Tatton-Brown-Rahman overgrowth syndrome

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About DNMT3A

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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