Mutation Details for c.1393-112a>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.1393-112a>G 
Exon or Intron  
Other Details All the exons and intronic boundaries analysed 
Contributors and Institutes
Paula Pacheco - Instituto Nacional de Saúde Dr Ricardo Jorge
Conceição Silva - Instituto Nacional de Saúde Dr Ricardo Jorge
Submitted Phenotype Details Patient 1: 32 years old, 2 positive sweat tests, respiratory infections, isolation of Pseudomonas aeruginosa, bronchiectasis, sinusitis, pancreatic sufficient. Patient 2: 6 years old, no clinical data 

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The Database was last updated at Apr 25, 2011