Mutation Details for c.3310G>T

cDNA Name c.3310G>T 
Protein Name p.Glu1104X 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name E1104X 
Other Details This mutation has been found in one among 232 CF chromosomes. Mutation on the other chromosome of the pancreatic insufficient CF patient is [delta]F508 
Contributors Zielinski J, Markiewiz D, Tsui LC   1992-08-17
Institute The Hospital For Sick Children Toronto, Canada 
Phenotype Information CFTR2
Reference Zielenski et al. 1995 

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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.

  • Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC   Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1995;5(1):43-7

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The Database was last updated at Apr 25, 2011