rs572043246

This variant is located in the KAT8 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

not provided; Li-Ghorbani-Weisz-Hubshman syndrome

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About KAT8

This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

View all KAT8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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