rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
|
9259195 |
1997 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
|
10422803 |
1999 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
|
10090484 |
1999 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
|
11462246 |
2001 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
|
9852677 |
1998 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
|
1446662 |
1992 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
|
1867200 |
1991 |
rs121908033
|
|
|
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
|
|
|
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
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
|
1464748 |
1992 |
rs121908033
|
|
|
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
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
|
22509010 |
2012 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Three founder-related low-density lipoprotein receptor (LDLR) gene mutations, D154N, D206E and V408M, cause familial hypercholesterolemia (FH) in approximately 90% of South African Afrikaners.
|
9727745 |
1998 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recommendations for the management of patients with familial hypercholesterolemia.
|
25404096 |
2015 |
rs121908033
|
|
|
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
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
|
24418289 |
2014 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Management of familial hypercholesterolemia in children and adolescents. Position paper of the Polish Lipid Expert Forum.
|
24636176 |
2014 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum.
|
23725921 |
2013 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.
|
15177124 |
2004 |
rs121908033
|
|
|
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
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
|
8462973 |
1993 |
rs121908033
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs121908033
|
|
A |
0.810 |
GeneticVariation |
CLINVAR |
|
|
|