rs1376578283
This variant is located in the ATP8B1 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters2 publicationsAbout ATP8B1
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]
View all ATP8B1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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