Mutation Details for c.274-2A>C

cDNA Name c.274-2A>C 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 406-2A->C 
Other Details A splicing mutation in intron 3 was detected by DGGE and identified by direct sequencing in a patient suffering from bronchectasia since childhood. This substitution creates a Mme site. 
Contributors Costes B, Girodon E, Ghanem N, Goossens M   1993-11-26
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details 406-2A->C was found in a male patient who died at 53y, was diagnosed at 8y, is PS, has moderate lung disease with disseminated bronchiectasis;pulmonary epidermoid carcinoma. (pers. corr. Girodon)  
Reference Costes et al. (NL#60) 

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The Database was last updated at Apr 25, 2011