Mutation Details for c.3469-17T>C

cDNA Name c.3469-17T>C 
Exon or Intron intron 21 
Legacy Exon or Intron intron 18 
Legacy Name 3601-17T->C 
Other Details This mutation was found to originate from a patient from Brittany. We think the change is possibly a disease causing mutation as we have never observed such a variation among more than 200 normal chromosomes analyzes so far, and most of the coding sequence of this chromosome has been studied and no other mutation was observed. The affected child is pancreatic insufficient and carries the [delta]F508 on the other chromosome. 
Contributors Ferec C, Quere I, Verlingue C, Guillermit H, Audrezet MP, Mercier B   1992-04-10
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The affected child is pancreatic insufficient and carries the [delta]F508 on the other chromosome.(original note) The mutation was found in an infant with neonatal hypertrypsinemia. (pers.corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011