Mutation Details for c.80delG

cDNA Name c.80delG 
Protein Name p.Gly27AspfsX64 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name 211delG 
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 mutation was identified in a French CF female patient (deceased) who carried 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