Mutation Details for c.744-3C>T

cDNA Name c.744-3C>T 
Exon or Intron intron 6 
Legacy Exon or Intron intron 6a 
Legacy Name 876-3C->T 
Other Details Tthis substitution was found on an allele also bearing 876-14del12. This chromosome was given to a CF child with [delta]F508 on the other allele. No other substitution has been identified on this complex allele. 
Contributors Chevalier-Porst F, Bozon D   1999-05-04
Institute Hopital Debrousse, Lyon, France 
Submitted Phenotype Details The mutation was identified in a 21 years old female with PI, and the following phenotype: 876-14del12,876-3C->T/delF508 (pers. corr. Bozon)  
Reference Chevalier-Porst & Bozon 1999 

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The Database was last updated at Apr 25, 2011