Mutation Details for c.88C>T

cDNA Name c.88C>T 
Protein Name p.Gln30X 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name Q30X 
Other Details This mutation has been detected by SSCP analysis, followed by direct sequencing and it can be detected by restriciton enzyme analysis because it destroys a AlwN I site. Mutation Q30X was found in 1/50 unrelated spanish CF non-[delta]F508 chromosomes.  
Contributors Chillon M, Nunes V, Casals T, Estivill X   1992-11-10
Institute Institut de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details The mutation was found in a 9 years old male patient diagnosed at 6 years of age, PS, with FEV1 40% and sweat chloride 120 mmol/l. he carries an unknown other mutation. (pers. corr. Casals) 
Reference Chill√≥n et al. 1994 

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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.

  • Chillon M, Casals T, Gimenez J, Nunes V, Estivill X   Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).   1994;3(3):223-30




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The Database was last updated at Apr 25, 2011