Variant: rs112029328 

    present in Gene: LDLR
    present in Chromosome: 19
    Position on Chromosome: 11102787
    Alleles of this Variant: G/A;C;T

rs112029328 in LDLR gene and Familial hypercholesterolemia - homozygous PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 10441197 1999 Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.

PMID 7749829 1995 Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH.

PMID 7718019 1994 Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.

PMID 21935675 2011 New contributions to the study of common double mutants in the human LDL receptor gene.

PMID 19361455 2009 Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

rs112029328 in LDLR gene and Hypercholesterolemia, Familial PMID 7718019 1994 Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.

PMID 8829662 1996 Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.

PMID 7616128 1995 Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

PMID 19361455 2009 Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

PMID 10634824 2000 Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.

PMID 22390909 2012 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.

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

PMID 20045108 2010 Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

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

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

PMID 10790219 2000 Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.

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

PMID 10441197 1999 Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.

PMID 10532689 1999 Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 20145306 2010 Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

PMID 16159606 2005 Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.