Mutation Details for c.1196C>A

cDNA Name c.1196C>A 
Protein Name p.Ala399Asp 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name A399D 
Other Details This change has been detected by DGGE analysis and direct sequencing. The mutation creates a Ple I restriction site 
Contributors T. Casals, MD. Ramos, J. Gimenez, N. Cobos   2002-01-01
Institute CGMM-IRO, Barcelona, Spain UFQ, HVH Barcelona,spain 
Submitted Phenotype Details The patient (male, 7y) was diagnosed at 5y, PS, sweat test 120mMol/L and FEV1 76%. He carries the 712-1G->T mutation on the other allele. 

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The Database was last updated at Apr 25, 2011