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Gene entry

NPC1

NPC intracellular cholesterol transporter 1

Chromosome
18
Cytoband
18q11.2
Variants (rsID)
53

NPC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q11.2). Its official name is “NPC intracellular cholesterol transporter 1”. The reference table lists 53 variants (rsID) for this gene.

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Clinically classified variants

37 reference-table entries with clinical significance.

  • rs114070977Benignsingle nucleotide variantNiemann-Pick disease, type C1
  • rs13381670Benignsingle nucleotide variantNiemann-Pick disease, type C1
  • rs151084683Benignsingle nucleotide variantNiemann-Pick disease, type C1
  • rs1805082Benignsingle nucleotide variantNiemann-Pick disease, type C1
  • rs1805084Benignsingle nucleotide variantNiemann-Pick disease, type C1
  • rs77080672Benignsingle nucleotide variantNiemann-Pick disease, type C1
  • rs145145840Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs151125564Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs190298665Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs28942104Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C
  • rs34084984Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs34226296Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs35248744Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs374526072Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs55680026Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs55724504Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1
  • rs756815030Conflicting interpretationsDeletionNiemann-Pick disease, type C1|Niemann-Pick disease, type C
  • rs80358254Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type D|Niemann-Pick disease, type C1
  • rs80358257Conflicting interpretationssingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C|6 conditions
  • rs120074135Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1
  • rs139751448Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C
  • rs200444084Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C
  • rs28942105Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1
  • rs28942107Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1
  • rs28942108Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1
  • rs369368181Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C
  • rs372030650Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C
  • rs398123284PathogenicDuplicationNiemann-Pick disease, type C1
  • rs758902805Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C|Abnormality of metabolism/homeostasis
  • rs759826138Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C1, juvenile form|Niemann-Pick disease, type C
  • rs786204455Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C
  • rs80358252Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Inborn genetic diseases
  • rs80358253Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1
  • rs80358259Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1|Niemann-Pick disease, type C|Inborn genetic diseases
  • rs886042268Pathogenicsingle nucleotide variantNiemann-Pick disease, type C1
  • rs886042270PathogenicDeletionNiemann-Pick disease, type C1
  • rs141243713Uncertain significancesingle nucleotide variantNiemann-Pick disease, type C1

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.