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Gene entry

KAT6A

lysine acetyltransferase 6A

Chromosome
8
Cytoband
8p11.21
Variants (rsID)
30

KAT6A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p11.21). Its official name is “lysine acetyltransferase 6A”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs3824276Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs886042000Conflicting interpretationssingle nucleotide variantAutosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|Intellectual disability
  • rs786200960Pathogenicsingle nucleotide variantKAT6A syndrome|Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|Inborn genetic diseases
  • rs138944476Uncertain significancesingle nucleotide variantAutosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.