Mutation Details for c.494delT

cDNA Name c.494delT 
Protein Name p.Leu165X 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name 624delT 
Other Details A deletion of T was identified at position 624 in exon 5. This deletion could be located also at position 625 or 626. This deletion was identified on a Russian CF chromosome in collaboration with Dr Kapranov. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B   1993-02-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details the mutation was identified in a Russian CF patient. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#53) 

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The Database was last updated at Apr 25, 2011