Mutation Details for c.2327C>G

cDNA Name c.2327C>G 
Protein Name p.Ser776X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name S776X 
Other Details This nonsense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Suthern France. It does not modifiy any restriction site. 
Contributors Claustres M, Guittard C, Desgorges M, Carles S   1997-07-23
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The 46-year old female CF patientis PS, has positive sweat chloride tests and severe lung disease. No other mutations were found. (pers. corr. Claustres)  
Reference Claustres et al. (NL#69) 

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The Database was last updated at Apr 25, 2011