rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
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 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
|
8956039 |
1996 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
|
9452054 |
1998 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
|
7683628 |
1993 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
rs397508531
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
BEFREE |
These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients.
|
7537150 |
1995 |