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 |
|---|---|---|---|
| RS1179570288 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS121909098 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, ATP8B1-related disorder |
| RS1322207888 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1324887048 | Health Risk | Conflicting classifications of pathogenicity | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS1366870956 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137973298 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS139012426 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS140005450 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS140634215 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141463153 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS142231389 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1438249656 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145750280 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS148715351 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Cholestasis, intrahepatic |
| RS149156534 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150499790 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ATP8B1-related disorder, Inborn genetic diseases |
| RS150844949 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS150860808 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder |
| RS1555689635 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555693515 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS193204986 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS200214627 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200648620 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Inborn genetic diseases, Benign recurrent intrahepatic cholestasis type 1 |
| RS201150730 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS201160977 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS201514636 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS201532178 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201803908 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS201885528 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS33965008 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS34018205 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS34315917 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS34583775 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS34719006 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, intrahepatic, of pregnancy |
| RS35140429 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS35238397 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Inborn genetic diseases, Progressive familial intrahepatic cholestasis type 1 |
| RS35969033 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS370252509 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS375842507 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS376358532 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377124910 | Health Risk | Conflicting classifications of pathogenicity | ATP8B1-related disorder, ATP8B1-related disorder |
| RS56355310 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, Cholestasis |
| RS568134011 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Inborn genetic diseases, Progressive familial intrahepatic cholestasis type 1 |
| RS575921074 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745546266 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS747429748 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747437391 | Health Risk | Conflicting classifications of pathogenicity | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS747771646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748084795 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749127600 | Health Risk | Conflicting classifications of pathogenicity | — |