rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation.
|
25799511 |
2015 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.
|
24440239 |
2014 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
|
24440181 |
2014 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
|
23891399 |
2014 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Ivacaftor in a G551D homozygote with cystic fibrosis.
|
24066763 |
2013 |
rs78655421
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
|
23951356 |
2013 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Among these mutations, the CF-causing missense mutation G551D-CFTR (approx.
|
22768251 |
2012 |
rs75527207
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |