Mutation Details for c.2658-2A>G

cDNA Name c.2658-2A>G 
Exon or Intron intron 16 
Legacy Exon or Intron intron 14b 
Legacy Name 2790-2A->G 
Other Details This mutation was found by DGGE analysis, followed by sequencing in one patient. The patient was homozygous for the mutation, even if the mutation did nto occur in any other chromosome out of a total of 225 from a North East Italian CF cohort. 
Contributors Marigo C, Bombieri C, Pignatti PF, Gasparini P, Bisceglia L, Zelante L   1994-01-22
Institute Istituto di Scienze Biologiche Verona, Italy 
Submitted Phenotype Details The homozygous patient (male, 20y) was diagnosed when 13 months old, is PI, has FEV! 22% and malnutrition. (pers. corr. Bombieri) 
Reference Marigo et al. (NL#61) 

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The Database was last updated at Apr 25, 2011