Mutation Details for c.3874-8T>A

cDNA Name c.3874-8T>A 
Exon or Intron intron 23 
Legacy Exon or Intron intron 20 
Legacy Name 4006-8T->A 
Other Details This substitution creates an Alu I site. The french CF patient has G542X 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 The mutation was identified in a 22 years olf female carrying G542X 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