rs2512411198

This variant is located in the DOT1L gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Inborn genetic diseases

About DOT1L

The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]

View all DOT1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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