Mutation Details for c.1966G>T

cDNA Name c.1966G>T 
Protein Name p.Glu656X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E656X 
Other Details This nonsense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Belgium which carries [delta]F508 on the other chromosome. This boy, born in 1996, presents a severe phenotype of CF with a positive sweat chloride test (92mmol/l) and a lung colonization with Staphylococcus aureus. This mutation does not modify any restriction site.  
Contributors Claustres M, Guittard C, Hilbert P(*)   1997-10-16
Institute Institut de Biologie Montpellier. (*)Institut de Pathologie et de Génétique 
Submitted Phenotype Details The mutation was found in a 1 year old male patient, PI, with severe lung disease and sweat chloride 92 mmol/l. He carries deltaF508 on the other allele. (pers. corr. Claustres) 
Reference Claustres et al. (NL#70) 

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The Database was last updated at Apr 25, 2011