|
rs111033609
|
|
|
0.820 |
GeneticVariation |
BEFREE |
This study analyzed routine clinical practice and outcomes of children with Byler disease (defined by homozygous c.923G>T mutation in ATP8b1), who initially presented to Children's Hospital of Pittsburgh of UPMC between January 2007 and October 2014.
|
25825852 |
2015 |
|
rs111033609
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In this study we analyzed a panel of missense mutations causing PFIC1 (G308V, D554N, G1040R) or BRIC1 (D70N, I661T).
|
19731236 |
2009 |
|
rs2109505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whereas rare mutations of this transporter were known to cause progressive familial intrahepatic cholestasis, the genome-wide association studies in Iceland find the common ABCB4 variant c.711A>T to be a general risk factor for elevated aminotransferases and higher impact variants to be potential determinants of early-onset gallstone disease, cholestasis of pregnancy, liver cirrhosis, and hepatobiliary cancer.
|
26410236 |
2015 |
|
rs72549398
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient was found to be a compound heterozygote for the missense mutation c.3148C>T (p.Arg1050Cys) associated with benign recurrent intrahepatic cholestasis type 2 in the homozygous state and for the nonsense mutation c.3904G>T (p.Glu1302Ter) associated with progressive familial intrahepatic cholestasis type 2.
|
31015375 |
2019 |
|
rs111033609
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
|
rs111033609
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121909098
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909099
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909100
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
|
9500542 |
1998 |
|
rs121909100
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
|
19731236 |
2009 |
|
rs121909100
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
|
26879107 |
2016 |
|
rs121909100
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
|
9918928 |
1999 |
|
rs121909100
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
|
15239083 |
2004 |
|
rs121909100
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
|
19918981 |
2010 |
|
rs121909101
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909104
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909105
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1562945221
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1562976061
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs375315619
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs377160065
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs387906381
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs111033609
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
|
23197899 |
2012 |
|
rs111033609
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
|
20038848 |
2010 |
|
rs111033609
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A missense mutation in FIC1 is associated with greenland familial cholestasis.
|
11093741 |
2000 |