Variant: rs121908043

present in Gene: MIR6886;LDLR present in Chromosome: 19 Position on Chromosome: 11113307 Alleles of this Variant: C/A;T

rs121908043 in MIR6886;LDLR gene and Hypercholesterolemia, Familial PMID 8882879 1996 Molecular genetics of familial hypercholesterolemia in Israel.

PMID 26343872 2015 Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

PMID 18400033 2008 Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

PMID 28028493 2016 Mutation detection in Chinese patients with familial hypercholesterolemia.

PMID 21157333 2011 Altered mRNA splicing in lipoprotein disorders.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 25911074 2016 Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

PMID 17335829 2007 A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.

PMID 19371225 2009 Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.

PMID 25846081 2015 Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

PMID 21382890 2011 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

PMID 17094996 2007 Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

PMID 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

rs121908043 in MIR6886;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 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 7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

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

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

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 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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