|
rs112029328
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic analysis of familial hypercholesterolaemia in Western Australia.
|
22883975 |
2012 |
|
rs112029328
|
|
Familial hypercholesterolemia - homozygous
|
C |
0.700 |
CausalMutation
|
CLINVAR |
New contributions to the study of common double mutants in the human LDL receptor gene.
|
21935675 |
2011 |
|
rs112029328
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.
|
19361455 |
2009 |
|
rs112029328
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
|
10735632 |
2000 |
|
rs112029328
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.
|
10441197 |
1999 |
|
rs112029328
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH.
|
7749829 |
1995 |
|
rs112029328
|
|
Familial hypercholesterolemia - homozygous
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.
|
7718019 |
1994 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
|
25461735 |
2015 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
|
25647241 |
2015 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.
|
18263977 |
2008 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
|
11754108 |
2002 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.
|
8096412 |
1993 |
|
rs121908026
|
|
Familial hypercholesterolemia - homozygous
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
|
2760205 |
1989 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
|
26892515 |
2016 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Identification and characterization of novel low-density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan.
|
17087781 |
2006 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
|
9664576 |
1998 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.
|
8399083 |
1993 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.
|
8093663 |
1993 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.
|
2352257 |
1990 |
|
rs121908028
|
|
Familial hypercholesterolemia - homozygous
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
|
2569482 |
1989 |