present in Gene: GPIHBP1
present in Chromosome: 8
Position on Chromosome: 143215294
Alleles of this Variant: A/C
rs587777641 in
GPIHBP1 gene and
Colitis
PMID 24614124 2014 Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
PMID 20124439 2010 Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.
PMID 21816778 2011 GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.