Mutation Details for c.2491G>T

cDNA Name c.2491G>T 
Protein Name p.Glu831X 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name E831X 
Other Details The nucleotide change G->T at position 2623 in exon 14a leads to E831X. The second chromosome carries a G551D mutation. The patient is 10 years old, and PI. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier B   1992-12-23
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference FĂ©rec et al. (NL#51) 

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The Database was last updated at Apr 25, 2011