Mutation Details for c.3177A>G

cDNA Name c.3177A>G 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name L1059L (3309A/G) 
Other Details no change (Leu at 1059) 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier B   1992-11-06
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient has sweat chloride of 100 mmol/l.(pers. corr. Ferec) 
Reference Ferec et al. (NL#50) 

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The Database was last updated at Apr 25, 2011