Mutation Details for c.274-1G>C

cDNA Name c.274-1G>C 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 406-1G->C 
Other Details This mutation creates a new Rsa I restriction site, and has been detected in an Italian CF patient using SSCP analysis and direct sequencing. 
Contributors Bonizzato A, Gasparini P   1992-04-18
Institute Instituto di Ricovero e Cura a Carattere Scientifico  
Submitted Phenotype Details Patient (F) is 15y, was diagnosed at birth, is PI, has FEV1=55% and sweat-chloride 98mmol/l. G542X was found on the other chromosome. (Pers. corr. Bonizzato) 
Reference Bonizzato et al. 1992 

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The Database was last updated at Apr 25, 2011