Mutation Details for c.1800delG

cDNA Name c.1800delG 
Protein Name p.Ile601PhefsX10 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 1932delG 
Other Details The mutation was identified in trans of deltaF508 in an infant who was diagnosed with CF based on neonatal screening results (IRT 362 microg/L and positive sweat test). It was inherited from the mother, who is from France.  
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details The child is still asymptomatic. 

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The Database was last updated at Apr 25, 2011