Mutation Details for c.1766+3A>C

cDNA Name c.1766+3A>C 
Exon or Intron intron 13 
Legacy Exon or Intron intron 12 
Legacy Name 1898+3A->C 
Other Details This mutation was identified by DGGE and direct sequencing. This mutation was identified on one Moroccan CF chromosome. 
Contributors Lissens W, Bonduelle M, Liebaers I Ferec C, Quere I, Audrezet MP, Mercier B   1993-03-23
Institute Centre de Transfusion Snaguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (male, 6y) diagnosed at birth, carrying deltaF508 on the other allele. (pers.corr. Ferec) 
Reference Mercier et al. 1995 

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The Database was last updated at Apr 25, 2011