Mutation Details for c.1471T>C

cDNA Name c.1471T>C 
Protein Name p.Cys491Arg 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name C491R 
Other Details This misense has been found in a CF patient of North African origin with [delta]F508 on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened. 
Contributors Chevalier-Porst F, Bozon D   1998-07-13
Institute Biochimie, Bat D, Hopital Debrousse, Lyon, France 
Submitted Phenotype Details This individual (M) is 17y. No clinical information is available for this man. DeltaF508 was found on the other allele. (Pers. corr. Bozon) 
Reference Chevalier-Porst & Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011