Mutation Details for c.1393-2A>G

cDNA Name c.1393-2A>G 
Exon or Intron intron 10 
Legacy Exon or Intron intron 9 
Legacy Name 1525-2A->G 
Other Details  
Contributors Ferec C.   2002-01-01
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF male patient genetically tested at 7 years of age, had sweat chloride 70-80 mmol/l, moderate lung disease and is PS. He carries 2789+5G->A on the other allele. (pers.corr. Ferec) 

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The Database was last updated at Apr 25, 2011