Mutation Details for c.4137-108A>G

cDNA Name c.4137-108A>G 
Exon or Intron intron 25 
Legacy Exon or Intron intron 22 
Legacy Name 4269-108A->G 
Other Details This substitution creates a BfrI site. 
Contributors Chevalier-Porst F, Bozon D   1999-05-04
Institute Hopital Debrousse, Lyon, France 
Submitted Phenotype Details 4269-108A->G was found in a male patient born in 1991, diagnosed at 3 months, with severe lung disease, positive sweat chloride, also carrying deltaF508 on the other allele.(pers corr. Bozon)  
Reference Chevalier-Porst & Bozon 1999 

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The Database was last updated at Apr 25, 2011