Mutation Details for c.274-1G>T

cDNA Name c.274-1G>T 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 406-1G->T 
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. This mutation destroys a EcoNI restriction site. This mutation has been found in one among 149 non-[delta]F508 chromosomes. The patient has [delta]F508 on the other chromosome. 
Contributors Bienvenu T, Fonknechten N, Desclauz-Arramond F, Kaplan JC, Beldjord C   1993-04-30
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The mutation was found in a female CF patient carrying deltaF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL #55) 

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The Database was last updated at Apr 25, 2011