rs78194216
|
|
Cystic Fibrosis
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
|
1379210 |
1992 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
rs78194216
|
|
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 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
rs78194216
|
|
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 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
|
8723693 |
1996 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
rs78194216
|
|
Cystic Fibrosis
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |