Variant: rs121909098 

    present in Gene: LOC100505549;ATP8B1
    present in Chromosome: 18
    Position on Chromosome: 57661207
    Alleles of this Variant: C/T

rs121909098 in LOC100505549;ATP8B1 gene and Cholestasis, benign recurrent intrahepatic 1 PMID 9918928 1999 Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 19731236 2009 Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.

PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

rs121909098 in LOC100505549;ATP8B1 gene and Cholestasis, progressive familial intrahepatic 1 PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

PMID 11093741 2000 A missense mutation in FIC1 is associated with greenland familial cholestasis.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 20038848 2010 Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

PMID 19731236 2009 Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.

PMID 23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.