Mutation Details for c.57G>A

cDNA Name c.57G>A 
Protein Name p.Trp19X 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name W19X 
Other Details This substitution destroys an Ava II site. The patient has [delta]F508 on the other CF chromosome and his parent's origin is Tunisia. 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 The mutation was found in a 13-year old female patient carrying deltaF508 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