rs542543248
This variant is located in the KANSL1 gene.
▶ClinVar annotation
About KANSL1
This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]
View all KANSL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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