|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
|
7583548 |
1995 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
|
22160468 |
2012 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
|
17347910 |
2007 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
|
24418289 |
2014 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
|
10090484 |
1999 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
|
1464748 |
1992 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
|
7550239 |
1995 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
|
22509010 |
2012 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
|
9852677 |
1998 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
|
17142622 |
2006 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
|
8462973 |
1993 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
|
10882754 |
2000 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Possible common mutations in the low density lipoprotein receptor gene in Chinese.
|
9452118 |
1998 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
|
21600525 |
2011 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
|
7635482 |
1995 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
BEFREE |
Mutations that were previously reported to be disease causing were identified in eight of nine individuals with FH and both cell lines (V502M, C146X, E207X, C660X, C646Y, and delG197), but none were found in controls.
|
12406975 |
2002 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
|
1446662 |
1992 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
|
24636176 |
2014 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
|
2726768 |
1989 |
|
rs28942080
|
LDLR;MIR6886
|
Hyperlipoproteinemia Type IIa
|
|
0.810 |
GeneticVariation |
UNIPROT |
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
|
23725921 |
2013 |