Variant: rs564427867 

    present in Gene: PCSK9
    present in Chromosome: 1
    Position on Chromosome: 55039931
    Alleles of this Variant: G/A

rs564427867 in PCSK9 gene and Familial hypercholesterolemia - homozygous PMID 20006333 2010 The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.

PMID 24859021 2014 Clinical significance of measuring soluble LR11, a circulating marker of atherosclerosis and HbA1c in familial hypercholesterolemia.

PMID 26374825 2015 Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

PMID 21146822 2011 Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.

PMID 25962062 2015 Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

PMID 17316651 2008 Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population.

rs564427867 in PCSK9 gene and HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 PMID 20006333 2010 The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.

PMID 25014035 2014 Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.