Mutation Details for c.1235delC

cDNA Name c.1235delC 
Protein Name p.Ala412GlufsX30 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1367delC 
Other Details  
Contributors Férec C   1999-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (male, deceased) diagnosed at birth, who was PI, had severe lung disease and sweat chloride of 176 mmol/l. He carried deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Férec 1999 

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The Database was last updated at Apr 25, 2011