Mutation Details for c.1680A>C

cDNA Name c.1680A>C 
Protein Name p.Arg560Ser 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name R560S 
Other Details This mutation was identified by DGGE and direct sequencing. 
Contributors Costes B, Auloge L, Ghanem N, Goossens M   1993-03-22
Institute Laboratoire de Biochimie Creteil, France 
Submitted Phenotype Details R560S was found in a patient carrying R560S on the other allele. He was an 11y M diagnosed at 4m, PI, with moderate lung disease and positive sweat chloride. (pers corr. Girodon)  
Reference Costes et al. (NL#54) 

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The Database was last updated at Apr 25, 2011