present in Gene: LDLR
present in Chromosome: 19
Position on Chromosome: 11107491
Alleles of this Variant: C/A;G;T
rs11547917 in
LDLR gene and
Hypercholesterolemia, Familial
PMID 20506408 2010 Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
PMID 15199436 2004 Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
PMID 10532689 1999 Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
PMID 15015036 2004 Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.
PMID 7489239 1995 Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample.
PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
PMID 11754108 2002 Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
rs11547917 in
LDLR gene and
Hyperlipoproteinemia Type IIa
PMID 7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
PMID 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
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 22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
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 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 24636176 2014 Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
PMID 25404096 2015 Recommendations for the management of patients with familial hypercholesterolemia.
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 1464748 1992 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
PMID 9452118 1998 Possible common mutations in the low density lipoprotein receptor gene in Chinese.
PMID 22364837 2012 INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
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 8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
PMID 11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
PMID 10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
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 22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
PMID 9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.
PMID 23725921 2013 Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
PMID 24418289 2014 Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
PMID 9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous 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 15177124 2004 Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.