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Non-Classic CF Genotype/Phenotype Database

Genotypes are arranged in the table from 5' to 3'. Genotypes including delF508 are listed in the top half of the table. All other genotypes are in the bottom half of the table.

Click on any of the links to the right of the genotype listing and you will be linked to tables containing additional information. You may have to scroll down to see your genotype of interest.

Identical genotypes have only one link to the information tables, however all patients with that genotype are represented by separate entries in each table.

Mutation 1 Mutation 2 Poly T and TG-tract status General Patient Info Medical History Sino-Pulmonary Findings Gastro-
intestinal Findings
Genito-
Urinary Findings
Biochemical Findings
delF508 P67L T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 D110H T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 R117C T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 R117C              
delF508 R117L T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 P205S T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 L206W T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 I336K T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 R352Q T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 5T/12TG T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 5T/13TG              
delF508 5T/12TG              
delF508 5T/12TG              
delF508 D579G T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 T582S T/TG General Med Hx Sino-Pulm GI GU Biochem
Mutation 1 Mutation 2 Poly T and TG-tract status General Patient Info Medical History Sino-Pulmonary Findings Gastro-
intestinal Findings
Genito-
Urinary Findings
Biochemical Findings
delF508 Nt2789+2insA T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 Nt2789+2insA              
delF508 Nt2789+5G>A T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 Nt2811G>T T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 V920M T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 D993A T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 L967S T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 Q996Q T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 L997F T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 I1027T T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 T1053I T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 Nt3600+1G>A T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 R1070W T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 S1118F T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 D1152H T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 D1152H              
delF508 D1152H              
delF508 Q1291H T/TG General Med Hx Sino-Pulm GI GU Biochem
delF508 Q1291H              
Mutation 1 Mutation 2 Poly T and TG-tract status General Patient Info Medical History Sino-Pulmonary Findings Gastro-
intestinal Findings
Genito-
Urinary Findings
Biochemical Findings
300delA Nt2621+1G>A T/TG General Med Hx Sino-Pulm GI GU Biochem
P67L R347P T/TG General Med Hx Sino-Pulm GI GU Biochem
G85E F191V T/TG General Med Hx Sino-Pulm GI GU Biochem
R117H Nt2185insA T/TG General Med Hx Sino-Pulm GI GU Biochem
R117H G103X T/TG General Med Hx Sino-Pulm GI GU Biochem
L138ins Nt3272-26A>G T/TG General Med Hx Sino-Pulm GI GU Biochem
Nt909delT Nt3272-26A>G T/TG General Med Hx Sino-Pulm GI GU Biochem
5T/12TG G463D T/TG General Med Hx Sino-Pulm GI GU Biochem
5T/12TG F693L T/TG General Med Hx Sino-Pulm GI GU Biochem
5T/13TG Nt2185insA T/TG General Med Hx Sino-Pulm GI GU Biochem
Mutation 1 Mutation 2 Poly T and TG-tract status General Patient Info Medical History Sino-Pulmonary Findings Gastro-
intestinal Findings
Genito-
Urinary Findings
Biochemical Findings
delI507 R117C T/TG General Med Hx Sino-Pulm GI GU Biochem
delI507 R117C              
G542X R1162L T/TG General Med Hx Sino-Pulm GI GU Biochem
Nt2789+5G>A L1007P T/TG General Med Hx Sino-Pulm GI GU Biochem
Nt3272-26A>G Nt3272-26A>G T/TG General Med Hx Sino-Pulm GI GU Biochem
Nt3272-26A>G Nt3272-26A>G              
A1067V S1235R T/TG General Med Hx Sino-Pulm GI GU Biochem
D1152H W1282X T/TG General Med Hx Sino-Pulm GI GU Biochem
Nt3600+2insT Nt3272-26A>G T/TG General Med Hx Sino-Pulm GI GU Biochem
Nt3849+10kbC>T Nt3849+10kbC>T T/TG General Med Hx Sino-Pulm GI GU Biochem
 
   

 

 
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Copyright 2000 Cystic Fibrosis Foundation Genotyping Center
Last modified: February 27, 2000