Mutation Details for c.3961G>C

cDNA Name c.3961G>C 
Protein Name p.Glu1321Gln 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name E1321Q 
Other Details The mutation was identified by DGGE and direct sequencing. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet MP, Mercier B   1994-11-15
Institute Centre de Transfusion Sanguine et de Biogenetique 
Submitted Phenotype Details The mutation was identified in an individual suspected of CF. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#64) 

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The Database was last updated at Apr 25, 2011