Variant: rs137943601 

    present in Gene: LDLR;MIR6886
    present in Chromosome: 19
    Position on Chromosome: 11113313
    Alleles of this Variant: G/A;C

rs137943601 in LDLR;MIR6886 gene and Familial hypercholesterolemia - homozygous PMID 21531209 2011 The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.

PMID 25487149 2015 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

PMID 18503695 2008 Low-density lipoprotein apheresis in children with familial hypercholesterolemia: follow-up to 21 years.

PMID 14974088 2004 Molecular characterization of familial hypercholesterolemia in German and Greek patients.

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 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 19843101 2010 Mutation screening in patients for familial hypercholesterolaemia (ADH).

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

rs137943601 in LDLR;MIR6886 gene and Hypercholesterolemia, Familial PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 12436241 2002 Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

PMID 9698020 1998 Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

PMID 9026534 1996 Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.

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

PMID 15199436 2004 Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.