Mutation Details for c.1981delA

cDNA Name c.1981delA 
Protein Name p.Ile661SerfsX2 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2113delA 
Other Details The mutation was identified by DGGE and direct sequencing. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet MP, Mercier B   1994-11-15
Institute Centre de Transfusion Sanguine et de Biogenetique 
Submitted Phenotype Details The homozygous Turkish CF patient(male, 18 months) was diagnosed at birth (with meconium ileus). He is PI and has severe lung disease. (pers. corr. Ferec and Clavel et al., 1997) 
Reference FĂ©rec et al. (NL#64) 

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The Database was last updated at Apr 25, 2011