Mutation Details for c.-226G>T

cDNA Name c.-226G>T 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -94G->T 
Other Details This presumed promoter mutation was found by DGGE and identified by DNA sequencing in a CF patient from South Africa. No other mutation was detected for this patient. It destroys an AvaII restriction site. 
Contributors Claustres M, Guittard C, Desgeorges M, Ramsay M   1997-08-04
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The female South-African patient has chronic lung disease and positive sweat chloride, and is PS. (pers. corr. Claustres)  
Reference Claustres et al. (NL#70) 

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The Database was last updated at Apr 25, 2011