rs975080118

This variant is located in the KMT2D gene.

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ClinVar annotation

Conflicting Classifications

3 submitters1 publication

not provided; Kabuki syndrome; KMT2D-related disorder

About KMT2D

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

View all KMT2D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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