Mutation Details for c.1240C>T

cDNA Name c.1240C>T 
Protein Name p.Gln414X 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name Q414X 
Other Details  
Contributors    1994-01-01
Submitted Phenotype Details One CF patient (male, 7y) diagnosed at 1.8y, is PI, has moderate lung disease (FEV1=62%)and carries DelF508 on the other allele. (Doerk et all 1993 and pers. corr. Doerk) 
Reference Dörk et al. 1994a 

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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.

  • Dork T, Fislage R, Neumann T, Wulf B, Tummler B   Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.   1994 001;93(1):67-73

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The Database was last updated at Apr 25, 2011