Mutation Details for c.2053C>T

cDNA Name c.2053C>T 
Protein Name p.Gln685X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name Q685X 
Other Details This mutation was identified by DGGE and direct sequencing. It was detected on a Yugoslavian CF chromosome. 
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 
Submitted Phenotype Details Audrezet et al.,1994 - The mutation was identified in a CF patient diagnosed at 6 years of age; the patient is PI, has lung disease with PA colonisation. Vouk et al., 2000 and pers.corr. Ferec - The mutation was identified in Slovenian CF patients 
Reference Audr├ęzet et al. (NL #48) 

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The Database was last updated at Apr 25, 2011