ATP8B1 Chromosome 18
ATPase phospholipid transporting 8B1
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What This Gene Does
This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATPase phospholipid transporting
Locus Type
gene with protein product
Location
18q21.31
Ensembl
ENSG00000081923
Associated Conditions (14)
Progressive familial intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 1
ATP8B1-related disorder
Cholestasis
intrahepatic
of pregnancy
1
Progressive familial intrahepatic cholestasis
Inborn genetic diseases
Progressive familial intrahepatic cholestasis type 2
Squamous cell lung carcinoma
Sarcoma
Familial cancer of breast
Familial intrahepatic cholestasis type 1
Key Variants
RS1179570288
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
Health Risk
RS121909098
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, ATP8B1-related disorder
Health Risk
RS1322207888
Conflicting classifications of pathogenicity
Health Risk
RS1324887048
Conflicting classifications of pathogenicity
Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
Health Risk
RS1366870956
Conflicting classifications of pathogenicity
Health Risk
RS137973298
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
Health Risk
RS139012426
Conflicting classifications of pathogenicity
ATP8B1-related disorder, ATP8B1-related disorder
Health Risk
RS140005450
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1
Health Risk
RS140634215
Conflicting classifications of pathogenicity
Health Risk
RS141463153
Conflicting classifications of pathogenicity
ATP8B1-related disorder, ATP8B1-related disorder
Health Risk
RS142231389
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
Health Risk
RS1438249656
Conflicting classifications of pathogenicity
Health Risk
All Variants (183)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS319443 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS369054652 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS374340059 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, ATP8B1-related disorder |
| RS515726137 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Inborn genetic diseases, Progressive familial intrahepatic cholestasis |
| RS541474497 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS74414989 | Health Risk | Pathogenic | — |
| RS746059848 | Health Risk | Pathogenic | — |
| RS747335870 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS750061899 | Health Risk | Pathogenic | — |
| RS752757689 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis |
| RS753965947 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS761575295 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS761784230 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS765889649 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS770257115 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, Cholestasis |
| RS781213892 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS950229238 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS1007521320 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis |
| RS1202682161 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder |
| RS121909100 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis |
| RS121909104 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1443328607 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 1, Cholestasis |
| RS1912544280 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis |
| RS2511746878 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511806400 | Health Risk | Pathogenic/Likely pathogenic | ATP8B1-related disorder, Benign recurrent intrahepatic cholestasis type 1, ATP8B1-related disorder |
| RS377132123 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS387906381 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS756395915 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1, Cholestasis |
| RS757976892 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1 |
| RS765716200 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS773092889 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1, Cholestasis |
| RS775370485 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS775827012 | Health Risk | Pathogenic/Likely pathogenic | Cholestasis, intrahepatic, of pregnancy |