Mutation Details for c.442delA

cDNA Name c.442delA 
Protein Name p.Ile148LeufsX5 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 574delA 
Other Details This mutation is not found in 45 other non-[delta]F CF chromosomes and 16 normal chromosomes tested. The patient has [delta]F508 on the other chromosome, a severe pancreatic deficiency and lung disease and was diagnosed by MI. 
Contributors Goossens M   1990-11-28
Institute Institut National de la Sante et de la Recherche Medicale Creteil, France 
Phenotype Information CFTR2
Reference Goossens 1992 (NL #29) 

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The Database was last updated at Apr 25, 2011