Mutation Details for c.3937C>T

cDNA Name c.3937C>T 
Protein Name p.Gln1313X 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name Q1313X 
Other Details A nucleotide change C->T was detected at position 4069 leading to Q1313X in exon 21. This change was detected once while screening 100 CF chromosome, which was identified by DGE and direct sequencing. 
Contributors Ferec C, Quere I, Mercier B, Audrezet MP, Guillermit H, Verlingue C   1992-08-17
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011