rs121908803
|
|
|
0.820 |
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 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
rs121908803
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
A protein sequence that can encode native structure by disfavoring alternate conformations.
|
11938353 |
2002 |
rs121908803
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
|
1284529 |
1992 |
rs121908803
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis.
|
8663008 |
1996 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
BEFREE |
These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis.
|
8663008 |
1996 |
rs121908803
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Dynamic association of proteasomal machinery with the centrosome.
|
10225950 |
1999 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
|
15528182 |
2005 |
rs121908803
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Regulation of Cl-/ HCO3- exchange by cystic fibrosis transmembrane conductance regulator expressed in NIH 3T3 and HEK 293 cells.
|
9920885 |
1999 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
|
12529365 |
2003 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs121908803
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis.
|
8663008 |
1996 |
rs121908803
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
|
21097845 |
2011 |
rs121908803
|
|
|
0.820 |
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 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs121908803
|
|
|
0.820 |
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 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
rs121908803
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |