Gene entry
ABCB4
ATP binding cassette subfamily B member 4
- Chromosome
- 7
- Cytoband
- 7q21.12
- Variants (rsID)
- 66
ABCB4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q21.12). Its official name is “ATP binding cassette subfamily B member 4”. The reference table lists 66 variants (rsID) for this gene.
Clinically classified variants
24 reference-table entries with clinical significance.
- rs1202283Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
- rs2109505Benignsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs2230028Benignsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs2302387Benignsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs45574932Benignsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs8187785Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
- rs8187789Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
- rs8187797Benignsingle nucleotide variantProgressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
- rs8187801Benignsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs8187802Benignsingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs2230029Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
- rs45476795Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
- rs45575636Conflicting interpretationssingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Low phospholipid associated cholelithiasis|Progressive familial intrahepatic cholestasis type 3|ABCB4-related disorders|Progressive familial intrahepatic cholestasis type 1
- rs561612231Conflicting interpretationssingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs61730509Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 1|Progressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3|See cases
- rs72552778Conflicting interpretationssingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Low phospholipid associated cholelithiasis|Progressive familial intrahepatic cholestasis type 3
- rs8187791Conflicting interpretationssingle nucleotide variantProgressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
- rs8187798Conflicting interpretationssingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
- rs8187808Conflicting interpretationssingle nucleotide variant
- rs121918442Uncertain significancesingle nucleotide variantLow phospholipid associated cholelithiasis
- rs147998447Uncertain significancesingle nucleotide variant
- rs31655Uncertain significancesingle nucleotide variant
- rs8187787Uncertain significancesingle nucleotide variant
- rs8187788Uncertain significancesingle nucleotide variantCholestasis, intrahepatic, of pregnancy, 3|Low phospholipid associated cholelithiasis|Progressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
Other listed variants
- rs31651
- rs31652
- rs1149220
- rs1149222
- rs1558376
- rs2097937
- rs3747806
- rs3761810
- rs4148805
- rs4148806
- rs4148807
- rs4148808
- rs4148810
- rs4148824
- rs4148828
- rs4148829
- rs8187811
- rs17149512
- rs17149539
- rs17149608
- rs45471996
- rs45480392
- rs45489093
- rs45495292
- rs45526441
- rs45547936
- rs45552036
- rs45561635
- rs45567832
- rs45576033
- rs45579936
- rs45583842
- rs45605336
- rs45624640
- rs76331237
- rs78253146
- rs117431116
- rs142202084
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.