Mutation Details for c.1652delG

cDNA Name c.1652delG 
Protein Name p.Gly551ValfsX8 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1784delG 
Other Details This mutation is associated with the haplotype C and was found on one of 110 non-[delta]F508 Italian CF chromosomes. It was not found on 45 non-[delta]F508 CF French chromosomes. The mutation abolishes a MnII site. 
Contributors Goossens M, Fanen P, Vidaud M Ferrari M, Cremonesi L   1990-09-19
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France Istituto di Ricovero e Cura a Carattere Scientifico Milano, Italy 
Submitted Phenotype Details The mutation was found in a female patient when 22 years old, diagnosed with CF at 7 months of age, who died at age 27. She was PI, has sweat chloride 124 mmol/l, severe lung disease and severe malnutrition. She carried R553X on the other allele. (pers. corr. Cremonesi) 
Reference Ferrari et al. 1991 

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The Database was last updated at Apr 25, 2011