rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
BEFREE
The p.[Arg74Trp;Asp1270Asn] and the p.Asp1270Asn have scarce functional effects, while p.[Arg74Trp;Val201Met;Asp1270Asn ] caused mild CF in four of five subjects carrying a class I-II mutation <i>in trans</i>, or CFTR-related disorders (CFTR-RD) in three having <i>in trans</i> a class IV-V mutation.
27738188
2017
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
25981758
2015
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
25431289
2014
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
24014130
2014
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
BEFREE
Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N ) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002).
25033378
2014
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
22475884
2012
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
21422883
2011
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
BEFREE
[R74W;R1070W;D1270N ]: a new complex allele responsible for cystic fibrosis .
20880762
2010
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
20675678
2010
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
20605539
2010
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
19914443
2009
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
19914445
2009
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
17761616
2007
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
15789152
2005
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Standards and guidelines for CFTR mutation testing.
12394352
2003
rs11971167
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.730
GeneticVariation
UNIPROT
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
11280952
2001