rs121908755
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
|
|
|
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
|
8723693 |
1996 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N.
|
17716958 |
2008 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
|
7680378 |
1993 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
CFTR gene variant for patients with congenital absence of vas deferens.
|
7573058 |
1995 |
rs121908755
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
|
15371903 |
2005 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs121908755
|
|
|
0.830 |
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 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
|
1710600 |
1991 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |