Mutation Details for c.709C>G

cDNA Name c.709C>G 
Protein Name p.Gln237Glu 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name Q237E 
Other Details The substitution was founf in an adult patient presenting with chronic pulmonary infections and a positive sweat chloride test. 
Contributors Costes B, Ghanem N, Girodon E, Goossens M   1994-04-18
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie 
Submitted Phenotype Details Q237E was found in a 32y male, diagnosed at 21y, PS, with moderate pulmonary symptoms and positive sweat chloride. He carries deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Costes et al. (NL#62) 

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The Database was last updated at Apr 25, 2011