Mutation Details for c.215C>A

cDNA Name c.215C>A 
Protein Name p.Ala72Asp 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name A72D 
Other Details The above mutation was detected by DGGE and direct sequencing, and confirmed by the presence of a new MaeII site. It was found with [delta]F508 on the other CF chromosome of a patient with severe CF. 
Contributors Le Gall J Y, Jézéquel P, Blayau M   1996-05-10
Institute Université de Rennes 1, France 
Submitted Phenotype Details  
Reference Le Gall et al. (NL#68) 

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The Database was last updated at Apr 25, 2011