DisGeNET - a database of gene-disease associations

Cystic Fibrosis, C0010674

Variant: rs77284892 ×

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:

rs77284892

CFTR

0.710

GeneticVariation

BEFREE

We here analyzed the read-through efficacy of PTC124 and G418 using human cystic fibrosis intestinal organoids (E60X/4015delATTT, E60X/F508del, G542X/F508del, R1162X/F508del, W1282X/F508del and F508del/F508del).

26255232

2016

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

23974870

2013

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.

22658665

2012

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Designing a genome-based HIV incidence assay with high sensitivity and specificity.

21716075

2011

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

21796730

2011

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Development of genomic reference materials for cystic fibrosis genetic testing.

19359498

2009

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

18456578

2008

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

15371903

2005

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

15371902

2005

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

16051530

2005

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.

15698945

2004

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

12865275

2003

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

11137998

2001

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

11379874

2001

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region.

11788090

2001

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

The association of nonsense codons with exon skipping.

9806422

1998

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.

7541274

1995

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.

8477260

1993

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.

7508414

1993

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

1284534

1992

dbSNP:

rs77284892

CFTR

0.710

CausalMutation

CLINVAR