rs1057516216
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516232
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
|
25910067 |
2015 |
rs1057516236
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516387
|
|
ACT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516415
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516457
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516609
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516619
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT.
|
26471113 |
2017 |
rs1057516646
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057516970
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517032
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517068
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.
|
10794365 |
2000 |
rs1057517068
|
|
AT |
0.700 |
GeneticVariation |
CLINVAR |
Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.
|
10794365 |
2000 |
rs1057517068
|
|
AT |
0.700 |
GeneticVariation |
CLINVAR |
Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
|
25900089 |
2016 |
rs1057517068
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.
|
16963320 |
2007 |
rs1057517068
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
|
23810505 |
2013 |
rs1057517068
|
|
AT |
0.700 |
GeneticVariation |
CLINVAR |
Identification and frequencies of cystic fibrosis mutations in central Argentina.
|
26500004 |
2016 |
rs1057517068
|
|
AT |
0.700 |
GeneticVariation |
CLINVAR |
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
|
23810505 |
2013 |
rs1057517068
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
Complete screening of the CFTR gene in Argentine cystic fibrosis patients.
|
12000363 |
2002 |
rs1057517276
|
|
GA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057517342
|
|
GTACA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517342
|
|
GTACA |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
|
15858154 |
2005 |
rs1057517404
|
|
GAA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060503164
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The phenotypic consequences of CFTR mutations.
|
12940920 |
2003 |
rs1060503164
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |