Mutation Details for c.1574_1590delAACTAGAAGAGGACATC

cDNA Name c.1574_1590delAACTAGAAGAGGACATC 
Protein Name p.Gln525LeufsX37 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1706del17 
Other Details Note:test This novel mutation resulting from a 17 base-pair deletion at exon 10-intron 10 boundary including the last 11 bp of exon 10 and the first bp of the intron 10, was detected in a single patient with a severe phenotype who was compound heterozygous for this mutation and [delta]F508.  
Contributors Leoni GB, Rosatelli MC, Cossu G, Pischedda C, De Virgiliis S, Cao A    1993-01-01
Institute Universita Degli Studi di Cagliari, Italy Istituto di Clinica e Biologia Dell'eta Evolutiva  
Submitted Phenotype Details The mutation was identified in 2 male patients, 24 and 8 years old, diagnosed at 9 and 2 years of age respectively. Both are PI, with high sweat chloride and severe lung disease. DeltaF508 and G542X respectively on the other allele.(pers. corr. Rosatelli) 
Reference Leoni et al. 1993 

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The Database was last updated at Apr 25, 2011