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 |
|---|---|---|---|
| RS751410046 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752045131 | Health Risk | Conflicting classifications of pathogenicity | Benign recurrent intrahepatic cholestasis type 1, Cholestasis, intrahepatic |
| RS754573787 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754912569 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS755666127 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756828618 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758180192 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS761202112 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS762363452 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764863689 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS767885426 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS772028343 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775490128 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776385207 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS776616431 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777459332 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778786114 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS780186596 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis |
| RS886054012 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS886054013 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1057524081 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Cholestasis, intrahepatic |
| RS1194018304 | Health Risk | Likely pathogenic | ATP8B1-related disorder, ATP8B1-related disorder |
| RS1350129130 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1, Cholestasis |
| RS1388531012 | Health Risk | Likely pathogenic | — |
| RS140665115 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis |
| RS146453954 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS1467710236 | Health Risk | Likely pathogenic | — |
| RS1568176564 | Health Risk | Likely pathogenic | — |
| RS1568178734 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis, Squamous cell lung carcinoma, Progressive familial intrahepatic cholestasis |
| RS1568188537 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Sarcoma, Benign recurrent intrahepatic cholestasis type 1 |
| RS1599066459 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1599069873 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1599166106 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1909534341 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS1913108251 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2122711426 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis |
| RS2511630187 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511630534 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511630610 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511652485 | Health Risk | Likely pathogenic | ATP8B1-related disorder, ATP8B1-related disorder |
| RS2511652728 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS2511688783 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511694971 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511706451 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511706903 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511757734 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511766728 | Health Risk | Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2511769346 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511769435 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511769729 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 1 |