Mutation Details for c.274G>T

cDNA Name c.274G>T 
Protein Name p.Glu92X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name E92X 
Other Details E92X, a G->T transversion at nucleotide position 406 changing the first codon in exon 4 to a nonsense codon (GAA->TAA). The haplotype is 2-2-1 (KM19-D9-J44) with seven GATT repeats. The mutation abolishes an EcoN I site. 
Contributors Dork T, Kalin N, Tummler B   1992-02-29
Institute Medizinische Hochschule Hannover 
Phenotype Information CFTR2
Reference Will 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.

  • Will K, Dork T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tummler B, Schmidtke J   A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.   1994 004;93(4):1852-9

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The Database was last updated at Apr 25, 2011