rs201601985

This variant is located in the KMT2E gene.

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ClinVar annotation

Conflicting Classifications
2 submitters2 publications

Intellectual disability, autosomal dominant 40; not provided

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About KMT2E

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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