Variant: rs2228671

present in Gene: LDLR present in Chromosome: 19 Position on Chromosome: 11100236 Alleles of this Variant: C/A;G;T

rs2228671 in LDLR gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs2228671 in LDLR gene and Hypercholesterolemia, Familial PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 15556094 2004 Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.

PMID 19026292 2008 Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.

PMID 25463123 2014 Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

PMID 11317361 2001 Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 11668627 2001 Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

rs2228671 in LDLR gene and Hyperlipoproteinemia Type IIa PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 24636176 2014 Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.

PMID 22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

PMID 22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 21600525 2011 Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

PMID 17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

PMID 22364837 2012 INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.

PMID 23725921 2013 Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

PMID 1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

PMID 27854360 2017 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.

PMID 10882754 2000 Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

PMID 1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

PMID 10422803 1999 An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

PMID 1464748 1992 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

PMID 15177124 2004 Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.

PMID 25404096 2015 Recommendations for the management of patients with familial hypercholesterolemia.

PMID 2726768 1989 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.

PMID 25053660 2014 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.

PMID 24418289 2014 Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

PMID 7550239 1995 Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.

PMID 8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

PMID 9452118 1998 Possible common mutations in the low density lipoprotein receptor gene in Chinese.

PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

PMID 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

rs2228671 in LDLR gene and Low density lipoprotein cholesterol measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.

rs2228671 in LDLR gene and Pyloric Stenosis, Hypertrophic PMID 22306654 2012 Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.

rs2228671 in LDLR gene and Serum LDL cholesterol measurement PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2228671 in LDLR gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs2228671 in LDLR gene and Serum total cholesterol measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.