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Gene entry

ATP8B1

ATPase phospholipid transporting 8B1

Chromosome
18
Cytoband
18q21.31
Variants (rsID)
64

ATP8B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q21.31). Its official name is “ATPase phospholipid transporting 8B1”. The reference table lists 64 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs12958967Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 1|Cholestasis, intrahepatic, of pregnancy, 1
  • rs319439Benignsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 1|Progressive familial intrahepatic cholestasis type 1
  • rs34255016Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs35671095Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs3745078Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs121909100Conflicting interpretationssingle nucleotide variantBenign recurrent intrahepatic cholestasis type 1|Progressive familial intrahepatic cholestasis type 1
  • rs137973298Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs193204986Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs34315917Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs34719006Conflicting interpretationssingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 1|Progressive familial intrahepatic cholestasis type 2|Progressive familial intrahepatic cholestasis type 1|Benign recurrent intrahepatic cholestasis type 1
  • rs754912569Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs776385207Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs146599962Likely benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs121909098Pathogenicsingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs121909103Pathogenicsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 1
  • rs142231389Uncertain significancesingle nucleotide variantProgressive familial intrahepatic cholestasis type 1
  • rs200648620Uncertain significancesingle nucleotide variantProgressive familial intrahepatic cholestasis type 1

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.