rs79282516
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs79282516
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
BEFREE |
G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals.
|
7757078 |
1995 |
rs79282516
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals.
|
7757078 |
1995 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
rs79282516
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
|
11388756 |
2001 |
rs79282516
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
As expected, the G480C cystic fibrosis mouse model expresses the G480C mutant transcript at a level comparable to that of wild-type CFTR: The homozygous mutant mice were fertile, had normal survival, weight, tooth colour and no evidence of caecal blockage, despite mild goblet cell hypertrophy in the intestine.
|
11823443 |
2002 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
rs79282516
|
|
|
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 |
rs79282516
|
|
|
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 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
rs79282516
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |