Mutation Details for c.2668C>T

cDNA Name c.2668C>T 
Protein Name p.Gln890X 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name Q890X 
Other Details This mutation creates a MseI site 
Contributors Goossens M, Costes B, Fanen P   1991-12-31
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Phenotype Information CFTR2
Reference Costes et al., 1993; Ghanem et al. 1994 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.   1996 003;16(3):215-22
  • Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M   Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 005 15;21(2):434-6
  • de Braekeleer M, Mari G, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Ferec C   Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada).   1997;40(4):205-8

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The Database was last updated at Apr 25, 2011