rs1057518647
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
rs1215189537
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.
22855658
2012
rs1215189537
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
17570373
2007
rs121918388
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
rs121918391
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
rs1399892057
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
26415676
2015
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
23936638
2013
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
23375686
2013
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
16250003
2005
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
2563166
1989
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
11238294
2001
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
24234650
2014
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.
10388479
1999
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
27206935
2017
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.
9191540
1997
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
7627691
1995
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.
9702952
1998
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Array-based resequencing for mutations causing familial hypercholesterolemia.
21376320
2011
rs144467873
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
22294733
2012
rs1553383473
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
rs1553383931
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
GT
0.700
CausalMutation
CLINVAR
rs1553384177
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
rs1558560212
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
G
0.700
GeneticVariation
CLINVAR
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
20032471
2010
rs1558564161
×
Entrez Id:
338
Gene Symbol:
APOB
APOB
Acanthocytosis With Hypobetalipoproteinemia
C
0.700
CausalMutation
CLINVAR
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
22095935
2012