Mutation Details for c.2989-2A>T

cDNA Name c.2989-2A>T 
Exon or Intron intron 18 
Legacy Exon or Intron intron 16 
Legacy Name 3121-2A->T 
Other Details This mutation was identified by DGGE and direct sequencing in intron 16, A->T at nucloetide position 3121-2. This mutation was identified on one Italian CF chromosome. 
Contributors Ferec C, Quere I, Audrezet MP, Mercier B   1994-07-22
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details This mutation was identified in one Italian CF patient. (pers.corr. Ferec) 
Reference FĂ©rec et al. 1995 

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The Database was last updated at Apr 25, 2011