Variant: rs1057519691 

    present in Gene: PCSK9
    present in Chromosome: 1
    Position on Chromosome: 55043958
    Alleles of this Variant: T/C;G

rs1057519691 in PCSK9 gene and HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 PMID 22683120 2012 Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.

rs1057519691 in PCSK9 gene and Hypercholesterolemia, Familial PMID 27998977 2017 The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

PMID 24115837 2013 The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

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 22683120 2012 Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.