Mutation Details for c.2815C>G

cDNA Name c.2815C>G 
Protein Name p.His939Asp 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name H939D 
Other Details This mutation was identified by DGGE and direct sequencing. The other mutation is still unidentified. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B   1993-03-23
Institute Centre de Tranfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found in a French CF patient (male) diagnosed at 5 years, having sweat chloride 45-68 mmol/l and mild pulmonary disease. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#54) 

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The Database was last updated at Apr 25, 2011