rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
8956052
1996
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.
8135797
1994
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
8956048
1996
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
8325986
1993
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.
22962670
2012
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
1674945
1991
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.
1400331
1992
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
2010533
1991
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Assessment of French patients with LPL deficiency for French Canadian mutations.
9279761
1997
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.
12641539
2003
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
1598907
1992
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.
10787434
2000
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
15877202
2005
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.
7906986
1994
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
8288243
1993
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
12204001
2002
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
8778602
1996
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
T
0.810
CausalMutation
CLINVAR
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.
7806969
1994
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
11068186
2000
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
11099402
2000
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
UNIPROT
Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.
1969408
1990
rs118204060
×
Entrez Id:
4023
Gene Symbol:
LPL
LPL
Hyperlipoproteinemia Type I
0.810
GeneticVariation
BEFREE
It has previously been estimated that due to genetic "founder effects," 97% of lipoprotein lipase (LPL) gene alleles conferring type I hyperlipoproteinemia (HLP) in French Canadians encode one of the following mutant LPL forms: Gly188-->Glu, Pro207-->Leu , or Asp250-->Asn.
7706936
1995