rs2530368656

This variant is located in the NAA15 gene.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter4 publications

Intellectual disability, autosomal dominant 50

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About NAA15

N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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