rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
7583548
1995
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
7550239
1995
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
8462973
1993
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
1464748
1992
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
1446662
1992
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
1867200
1991
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
2726768
1989
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
C
0.810
GeneticVariation
CLINVAR
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
C
0.810
CausalMutation
CLINVAR
rs397509365
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
G
0.810
GeneticVariation
CLINVAR