Mutation Details for c.1469_1470delTC

cDNA Name c.1469_1470delTC 
Protein Name p.Phe490LeufsX13 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1601delTC 
Other Details The 1601delTC mutation was detected by nondenaturing gel electrophoresis analysis and direct sequencing in an Italian CF patient with PI, carrying [delta]F508 on the other chromosome.  
Contributors Leoni G B, Rosatelli M C, Cao A   1996-03-22
Institute Universita Degli Studi di Cagliari, Italy 
Submitted Phenotype Details The male CF patient had classical CF phenotype, being PI, with moderate lung disease (Pseudomonas colonization and recurrent respiratory infections) and sweat chloride 130 mmol/l. (pers. corr. Rosatelli) 
Reference Leoni et al. (NL#68) 

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The Database was last updated at Apr 25, 2011