Mutation Details for c.410T>G

cDNA Name c.410T>G 
Protein Name p.Leu137Arg 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L137R 
Other Details This French CF patient has [delta]F508 on the other CF chromosome. This substitution creates a Cfo I site. 
Contributors Chevalier-Porst F, Bozon D   1997-10-28
Institute Biochimie, Bat D, Hopital Debrousse, Lyon, France 
Submitted Phenotype Details (pers.corr. Bozon) The patient, male, 24 yrs, has delF508 on the other allele 
Reference Chevalier-Porst & Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011