LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. 17142622 2006
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. 7635482 1995
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803 1999
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 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
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation BEFREE Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. 1830890 1991
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		T 0.880 GeneticVariation CLINVAR
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. 10090484 1999
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation BEFREE The proline664 to leucine mutations was previously identified in an FH homozygote of Asian Indian origin and later identified in patients from London. 8478013 1993
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548 1995
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 15177124 2004
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118 1998
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921 2013
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 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
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973 1993
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Recommendations for the management of patients with familial hypercholesterolemia. 25404096 2015
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum. 24636176 2014
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748 1992
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation BEFREE Based on the genetic mutation, the FH subjects were divided into 2 groups, K790X, (n=20) and P664L, (n=5), and their LDLR activities was measured by this method, which was found to be 55.3+/-8.9% and 63.9+/-13.8%, respectively, of that of the control group (n=15). 19013141 2009
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia. 10882754 2000
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation BEFREE Therefore, the coexistence of Pro685Leu and Trp577Term mutations in LDLR is a novel compound heterozygosis in Chinese patients and may lead to a severe FH phenotype. 30112042 2018
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 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
dbSNP: rs28942084
rs28942084
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.880 GeneticVariation UNIPROT Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail. 22509010 2012