Mutation Details for c.912C>G

cDNA Name c.912C>G 
Protein Name p.Tyr304X 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name Y304X 
Other Details The above mutation was found on a CF chromosome in a patient of French origin by DGGE and DNA sequencing. It was also found in the same family by V. Dumur and G.Lalau-Lille. 
Contributors Férec C, Mercier B, Quere I   1995-08-29
Institute Centre de Transfusion Sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was found in a French CF female patient carrying deltaF508 on the other allele. (pers.corr. Ferec) 
Reference Férec et al (NL#67) 

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The Database was last updated at Apr 25, 2011