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Gene entry

KANSL1

KAT8 regulatory NSL complex subunit 1

Chromosome
17
Cytoband
17q21.31
Variants (rsID)
37

KANSL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.31). Its official name is “KAT8 regulatory NSL complex subunit 1”. The reference table lists 37 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs1052587Benignsingle nucleotide variantMAPT-Related Spectrum Disorders|Syndromic intellectual disability
  • rs117412152Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs140181991Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs142696045Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs144337302Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs188294801Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs200103894Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs201083879Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs201526313Benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs7220988Benignsingle nucleotide variantSyndromic intellectual disability|MAPT-Related Spectrum Disorders|Koolen-de Vries syndrome
  • rs754727332Benignsingle nucleotide variantKoolen-de Vries syndrome|Intellectual disability
  • rs201785695Conflicting interpretationssingle nucleotide variantKoolen-de Vries syndrome
  • rs371108710Conflicting interpretationssingle nucleotide variantKoolen-de Vries syndrome
  • rs757031050Conflicting interpretationssingle nucleotide variantKoolen-de Vries syndrome
  • rs779594202Conflicting interpretationssingle nucleotide variantKoolen-de Vries syndrome
  • rs142062936Likely benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs16940802Likely benignsingle nucleotide variantSyndromic intellectual disability|MAPT-Related Spectrum Disorders
  • rs760224197Likely benignsingle nucleotide variantKoolen-de Vries syndrome
  • rs281865470Pathogenicsingle nucleotide variantKoolen-de Vries 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.