Mutation Details for c.164+2T>C

cDNA Name c.164+2T>C 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 296+2T->C 
Other Details This mutation was identified on one french CF chromosome. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet MP, Mercier B   1994-07-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male) has positive sweat chloride and carries DeltaF508 on the other allele. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#63) 

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The Database was last updated at Apr 25, 2011