Mutation Details for c.111_112delAT

cDNA Name c.111_112delAT 
Protein Name p.Tyr38ProfsX6 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name 241delAT 
Other Details This mutation was discovered by denaturing gradient gel analysis. It was found once among 31 [delta]F508, 63 CF non-[delta]F508 and 37 normal chromosomes analysed. 
Contributors Fanen P, Ghanem N, Goossens   1991-04-30
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The 241delAT was found in a 17y male Cf patient, diagnosed when 3y old, PI, with moderate lung disease and positive sweat chloride. He carries deltaF508 on the other allele. (pers. corr. Girodon) 
Reference Fanen et al. 1992 

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The Database was last updated at Apr 25, 2011