Mutation Details for c.4243-1G>C

cDNA Name c.4243-1G>C 
Exon or Intron intron 26 
Legacy Exon or Intron intron 23 
Legacy Name 4375-1G->C 
Other Details This mutation was found on the paternal CF chromosome from a patient with 3849+10kb C to T on the maternal CF allele.This mutation creates a Mae II site. 
Contributors Chevalier-Porst F, Bozon D   1999-05-04
Institute Hopital Debrousse, Lyon, France 
Submitted Phenotype Details The mutation was found in a 19 years old male patient. No additional information available. (pers. corr. Bozon) 
Reference Chevalier-Porst & Bozon 1999 

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The Database was last updated at Apr 25, 2011