rs2147168881

This variant is located in the KDM6A gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Kabuki syndrome 2

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About KDM6A

This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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