Mutation Details for c.1528delG

cDNA Name c.1528delG 
Protein Name p.Val510PhefsX17 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1660delG 
Other Details This mutation has been identified in a Spanish patient  
Contributors J. Gimenez, M.D. Ramos, T. Casals   2006-08-30
Institute CGMM-IRO 
Submitted Phenotype Details The individual (male, 22y) has bronchiectasis. He presents the genotype [D1152H] + [1660delG] and borderline sweat test (47-50 nmol/L). 
Reference  

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The Database was last updated at Apr 25, 2011