Mutation Details for c.1008_1019dup12

cDNA Name c.1008_1019dup12 
Protein Name p.Phe337_Ile340dup 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1151ins12 
Other Details This mutation was identified in one CF patient carrying the deltaF508 mutation on the other chromosome. No other mutation was detected after a wide CFTR gene mutation screening (27 exons and intronic boundaries) by DHPLC methodology. 
Contributors Bieth E., Gaston V., Michau P    2003-09-23
Institute Laboratoire de GŽnŽtique MŽdicale; H™pital Purpan; CHU de Toulouse (France) 
Submitted Phenotype Details The patient (a female of hispanic origin) was referred for chronic cough, failure to thrive and positive sweat test (Cl- = 80 mEq/l). At age 6 years she expressed a severe phenotype with pancreatic insufficiency, and recurrent pulmonary infections (H. influenzae and S. aureus.) 

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The Database was last updated at Apr 25, 2011