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 |
|---|---|---|---|
| RS2511770981 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511771213 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511771233 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511771401 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511778163 | Health Risk | Likely pathogenic | Cholestasis, intrahepatic, of pregnancy |
| RS2511877334 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS773846546 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS776670060 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS1057523495 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS111033609 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis |
| RS121909099 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS121909101 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1 |
| RS121909103 | Health Risk | Pathogenic | Cholestasis, intrahepatic, of pregnancy |
| RS121909105 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS1246761302 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1323188207 | Health Risk | Pathogenic | — |
| RS1324824195 | Health Risk | Pathogenic | — |
| RS140407614 | Health Risk | Pathogenic | ATP8B1-related disorder, ATP8B1-related disorder |
| RS1455274169 | Health Risk | Pathogenic | — |
| RS1568183127 | Health Risk | Pathogenic | — |
| RS1568183268 | Health Risk | Pathogenic | — |
| RS1909531869 | Health Risk | Pathogenic | — |
| RS1909823551 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS1912903065 | Health Risk | Pathogenic | Familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS1913293128 | Health Risk | Pathogenic | — |
| RS1913405478 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS2122653939 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511610263 | Health Risk | Pathogenic | — |
| RS2511616619 | Health Risk | Pathogenic | — |
| RS2511618910 | Health Risk | Pathogenic | — |
| RS2511619782 | Health Risk | Pathogenic | — |
| RS2511619878 | Health Risk | Pathogenic | — |
| RS2511625410 | Health Risk | Pathogenic | — |
| RS2511625419 | Health Risk | Pathogenic | — |
| RS2511630211 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511630860 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS2511652298 | Health Risk | Pathogenic | — |
| RS2511652911 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS2511653938 | Health Risk | Pathogenic | — |
| RS2511685048 | Health Risk | Pathogenic | — |
| RS2511745907 | Health Risk | Pathogenic | — |
| RS2511746082 | Health Risk | Pathogenic | — |
| RS2511756942 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS2511757259 | Health Risk | Pathogenic | — |
| RS2511757617 | Health Risk | Pathogenic | — |
| RS2511769499 | Health Risk | Pathogenic | — |
| RS2511779603 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS2511791431 | Health Risk | Pathogenic | — |
| RS2511806058 | Health Risk | Pathogenic | — |
| RS2511877565 | Health Risk | Pathogenic | — |