Mutation Details for c.2597G>A

cDNA Name c.2597G>A 
Protein Name p.Cys866Tyr 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name C866Y 
Other Details This mutation was found on one CF chromosome while screening that exon with DGGE and following DNA sequencing. The other mutation is at this time unidentified. 
Contributors Audrezet MP, Guillermit H, Mercier B, Quere I, Verlingue C, Ferec C   1991-12-31
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with echogenic bowel. (pers.corr. Ferec) 
Reference Audr├ęzet et al. (NL#41) 

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The Database was last updated at Apr 25, 2011