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KAT7

Synonyms
HBO1, HBOA, MYST2, ZC2HC7
External resources
Summary
The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,615
Likely benign
913
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KAT7 gene.

Phenotype class
Patients in 3billion (%)

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