Mutation Details for c.1117-31A>G

cDNA Name c.1117-31A>G 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1249-31A->G 
Other Details The individual (male, 21y) was suspected of CF 
Contributors J. Gimenez, M.D. Ramos, T. Casals   2006-08-30
Institute CGMM-IRO 
Submitted Phenotype Details The patient also presents the mutation Q378R probably in trans. 

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The Database was last updated at Apr 25, 2011