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: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Recommendations for the management of patients with familial hypercholesterolemia. 25404096 2015
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. 24418289 2014
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. 25053660 2014
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921 2013
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia. 22364837 2012
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. 15177124 2004
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation BEFREE We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del > 15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del > 15kb/W66G; del > 15kb/C646Y) and seven homozygotes (three del > 15 kb; three W66G: one E207K) with FH unrelated to the first and second degree. 10208489 1999
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803 1999
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118 1998
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. 9852677 1998
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs28942083
rs28942083
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
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