Mutation Details for c.494T>C

cDNA Name c.494T>C 
Protein Name p.Leu165Ser 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name L165S 
Other Details The patient is 20 years old, pancreatic insufficient, and the second chromosome carries the [delta]F508. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier B   1992-12-23
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The patient (male, 33y) is a PS French CF patient who also carries deltaF508 on the other allele. (pers. corr. Ferec)  
Reference FĂ©rec et al. (NL#51) 

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The Database was last updated at Apr 25, 2011