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Gene entry

HLCS

holocarboxylase synthetase

Chromosome
21
Cytoband
21q22.13
Variants (rsID)
83

HLCS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.13). Its official name is “holocarboxylase synthetase”. The reference table lists 83 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs1065758Benignsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs149104163Benignsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs61732502Benignsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs61732504Benignsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs77014096Benignsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs119103228Conflicting interpretationssingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs142524025Conflicting interpretationssingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs147474255Conflicting interpretationssingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs149291867Conflicting interpretationssingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs181989786Conflicting interpretationssingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs191115811Conflicting interpretationssingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs117270429Likely benignsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs119103227Likely pathogenicsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs119103229Pathogenicsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs119103230Pathogenicsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs119103231Pathogenicsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs146448211Pathogenicsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs753887925Pathogenicsingle nucleotide variantHolocarboxylase synthetase deficiency
  • rs771944310PathogenicDeletionHolocarboxylase synthetase deficiency

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.