Mutation Details for c.574G>A

cDNA Name c.574G>A 
Protein Name p.Asp192Asn 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name D192N 
Other Details It creates a Msel restriction site in the DNA sequence. The mutation was found in an adult CF patient who has pulmonary infections since childhood. The patient is [delta]F508 heterozygous. 
Contributors Costes B, Ghanem N, Girodon E, Goossens M   1994-04-18
Institute Unites de Recherches en Genetique Moleculaireet en Hematologie Creteil, France 
Submitted Phenotype Details D192N was found in a 44y female patient also carrying deltaF508 on the other allele. She was diagnosed at 2y, is PS, has moderate pulmonary symptoms and borderline sweat chloride. She was also diagnosed with disseminated bronchiectasis. (pers. corr. Girodon)  
Reference Costes et al. (NL#62) 

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The Database was last updated at Apr 25, 2011