Mutation Details for c.1656delA

cDNA Name c.1656delA 
Protein Name p.Gln552HisfsX7 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1787delA 
Other Details The above mutation was discovered by DGGE and identified by direct sequencing. This mutation has been found once in 353 non-[delta]F508 CF chromosomes from the Portuguese population. The patient carries the G551D on the other chromosome and presented with severe lung disease, PI and positive sweat tests. 
Contributors Pacheco P, Costa M, Loureiro P, Lavinha J   1999-06-02
Institute Instituto Nacional de Sa├║de Lisboa, Portugal 
Submitted Phenotype Details The patient (male, 2 years old) was diagnosed at 3 months of age. He is PI, has positive sweat chloride and severe lung disease. (pers. corr. Pacheco) 
Reference Pacheco et al. 1999 

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The Database was last updated at Apr 25, 2011