DisGeNET - a database of gene-disease associations

Hyperlipoproteinemia Type IIa, C0745103

Variant: rs28942080 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

7583548

1995

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.

22160468

2012

dbSNP:

rs28942080

LDLR ; MIR6886

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

dbSNP:

rs28942080

LDLR ; MIR6886

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

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

9259195

1997

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

24418289

2014

dbSNP:

rs28942080

LDLR ; MIR6886

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

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Molecular genetics of familial hypercholesterolaemia in Norway.

9104431

1997

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

1464748

1992

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs28942080

LDLR ; MIR6886

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

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

22509010

2012

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

11462246

2001

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

9852677

1998

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

CausalMutation

CLINVAR

dbSNP:

rs28942080

LDLR ; MIR6886

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

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

8462973

1993

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

10882754

2000

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Possible common mutations in the low density lipoprotein receptor gene in Chinese.

9452118

1998

dbSNP:

rs28942080

LDLR ; MIR6886

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

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

7635482

1995

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

CLINVAR

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

BEFREE

Mutations that were previously reported to be disease causing were identified in eight of nine individuals with FH and both cell lines (V502M, C146X, E207X, C660X, C646Y, and delG197), but none were found in controls.

12406975

2002

dbSNP:

rs28942080

LDLR ; MIR6886

0.810

GeneticVariation

UNIPROT

A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

1446662

1992

dbSNP: