rs1554392248
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TGTTAA
0.700
GeneticVariation
CLINVAR
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.
15520400
2004
rs1554392248
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TGTTAA
0.700
GeneticVariation
CLINVAR
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
16493442
2006
rs121908788
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TG
0.700
CausalMutation
CLINVAR
rs1562911661
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TG
0.700
CausalMutation
CLINVAR
rs397508339
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TG
0.700
CausalMutation
CLINVAR
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings.
10925568
2000
rs397508339
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TG
0.700
CausalMutation
CLINVAR
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
12874665
2003
rs1554397497
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TCCTA
0.700
GeneticVariation
CLINVAR
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
24586523
2014
rs1554391033
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Congenital bilateral aplasia of vas deferens
TCAGA
0.700
GeneticVariation
CLINVAR
rs1554391033
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TCAGA
0.700
GeneticVariation
CLINVAR
rs1554391491
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TC
0.700
GeneticVariation
CLINVAR
rs1263488842
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TATAGGTGGGATTCTTA
0.700
GeneticVariation
CLINVAR
rs1554389486
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TAACG
0.700
GeneticVariation
CLINVAR
rs1554380465
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
rs1562914838
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
CausalMutation
CLINVAR
rs397508294
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
CausalMutation
CLINVAR
rs397508405
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
CausalMutation
CLINVAR
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
23974870
2013
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
25066652
2014
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
12167682
2002
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
16189704
2005
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Making the diagnosis of cystic fibrosis.
18195584
2008
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.
20144563
2010
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
24586523
2014
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.
11101688
2000
rs397508414
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
TA
0.700
GeneticVariation
CLINVAR
Effect of maternal cystic fibrosis genotype on diabetes in pregnancy.
23168765
2012