rs79850223
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%).
|
19715466 |
2009 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
|
7513293 |
1994 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
|
10439967 |
1999 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype.
|
11005149 |
2000 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Correlation between mutations and age in cystic fibrosis in a French Canadian population.
|
10777368 |
2000 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Extensive molecular analysis of patients bearing CFTR-related disorders.
|
22020151 |
2012 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.
|
17716958 |
2008 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.
|
8707306 |
1996 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.
|
15176679 |
2004 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.
|
10388469 |
1999 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.
|
21909392 |
2011 |
rs79850223
|
|
T |
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 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis.
|
21811577 |
2011 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.
|
1371265 |
1992 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Here, we describe a three-generation CF family with a complex CFTR allele that has not been previously described, containing the missense mutation R334W in exon 7 and the nonsense mutation R1158X in exon 19.
|
8844211 |
1996 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
|
18456578 |
2008 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
|
11388756 |
2001 |
rs79850223
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.
|
9003508 |
1997 |