Mutation Details for c.1990G>T

cDNA Name c.1990G>T 
Protein Name p.Glu664X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E664X 
Other Details The mutation was identified by DGGE and direct sequencing. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O Audrezet MP, Mercier B   1994-11-15
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male, 19y) was diagnosed at 6 months. He is PS, has positive sweat tests and moderate lung disease (recurrent chest infections)(Clavel et al., 1997 and pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#64) 

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The Database was last updated at Apr 25, 2011