Mutation Details for c.2998delA

cDNA Name c.2998delA 
Protein Name p.Ile1000LeufsX2 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3130delA 
Other Details  
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2004-01-21
Institute Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France 
Submitted Phenotype Details This mutation was identified at the homozygous state in a Turkish neonate who was diagnosed with CF after neonatal screening (elevated IRT and positive sweat test). Her parents are first-cousins and are heterozygous for 3130delA. 

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The Database was last updated at Apr 25, 2011