Mutation Details for c.1674delA

cDNA Name c.1674delA 
Protein Name p.Ala559GlnfsX13 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1806delA 
Other Details This mutation was identified by DGGE and direct sequencing. This nucleotide change was observed in one French CF chromosome. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Raguenes O, Guillermit H, Mercier B   1993-06-07
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (female, 8y) diagnosed at birth, carrying deltaF508 on the other allele. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#59) 

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The Database was last updated at Apr 25, 2011