Mutation Details for c.1117-5A>G

cDNA Name c.1117-5A>G 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1249-5A->G 
Other Details It was found in one French female CF patient. She carries [delta]F508 on the other chromosome. This mutation was not found on further 120 CF chromosomes.  
Contributors Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C   1994-04-03
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The female French CF patient has positive sweat chloride and carries deltaF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#62) 

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The Database was last updated at Apr 25, 2011