Mutation Details for c.1116+1G>C

cDNA Name c.1116+1G>C 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1248+1G->C 
Other Details  
Contributors Ferec C.   2002-01-01
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF female patient genetically tested at 8 years of age, had sweat chloride 102 mmol/l and carries deltaF508 on the other allele. (pers.corr. Ferec) 

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The Database was last updated at Apr 25, 2011