Mutation Details for c.1650delA

cDNA Name c.1650delA 
Protein Name p.Gly551ValfsX8 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1782delA 
Other Details This mutation is a frameshift 1782delA in exon 11 introducing a terminator codon (UAG) at amino acid position 558. This deletion jas been identified on the maternal CF chromosome in a PI patient originating from Northern Italy (Lombardy) and bearing the [delta]F508 on the other chromosome.  
Contributors Ferrari M, Seia M, Russo S, Corbetta C   1994-11-22
Institute Istituto di Ricovero e cura a Carattere Scientifico 
Submitted Phenotype Details The mutation was found in a 8 years old female patient diagnosed at 1 month of age after meconium ileus, PI, with sweat chloride 82 mmol/l and mild respiratory symptoms. She carries deltaF508 on the other allele. (pers. corr. Cremonesi) 
Reference Ferrari et al. (NL#64) 

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The Database was last updated at Apr 25, 2011