Mutation Details for c.913T>G

cDNA Name c.913T>G 
Protein Name p.Phe305Val 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name F305V 
Other Details This mutation was identified on one Greek CF chromosome. 
Contributors M. Poulou, M. Tzetis and E. Kanavakis   2006-04-12
Institute Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens Greece 
Submitted Phenotype Details The individual (male, 35y) was found during our screening program of relatives of CF children. His wife (CF relative) was found to be a carrier. 

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The Database was last updated at Apr 25, 2011