Mutation Details for c.868C>T

cDNA Name c.868C>T 
Protein Name p.Gln290X 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name Q290X 
Other Details The above mutation was found by DGGE and direct sequencing in Caucasian patients. 
Contributors Férec C, Quere I, Verlingue C, Raguenes O, Audrézet M-P, Mercier B   1995-02-07
Institute Centre de Transfusion sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (male, 18y) carrying deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Férec et al. (NL#65) 

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The Database was last updated at Apr 25, 2011