Variant: rs145844329 

    present in Gene: GPIHBP1
    present in Chromosome: 8
    Position on Chromosome: 143215486
    Alleles of this Variant: G/A;C

rs145844329 in GPIHBP1 gene and HYPERLIPOPROTEINEMIA, TYPE ID PMID 21314738 2011 Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation.

PMID 20026666 2010 Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.

PMID 21816778 2011 GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

PMID 23831619 2013 Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.

PMID 25387803 2015 GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

PMID 22239554 2012 Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

PMID 19304573 2009 Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

PMID 27578123 2017 Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.