rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
A
0.810
GeneticVariation
CLINVAR
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
A
0.810
CausalMutation
CLINVAR
rs121908033
×
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
rs121908033
×
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
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
22160468
2012
rs121908033
×
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
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
10422803
1999
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
22509010
2012
rs121908033
×
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
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
17347910
2007
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.
21600525
2011
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
9852677
1998
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
17142622
2006
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
15177124
2004
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
25053660
2014
rs121908033
×
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
rs121908033
×
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
rs121908033
×
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
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
11462246
2001
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
24418289
2014
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
INTERIM guidelines for the diagnosis and management of familial hypercholesterolaemia.
22364837
2012
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
23725921
2013
rs121908033
×
Entrez Id:
3949
Gene Symbol:
LDLR
LDLR
Hyperlipoproteinemia Type IIa
0.810
GeneticVariation
UNIPROT
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
24636176
2014