Mutation Details for c.744-14_744-3del

cDNA Name c.744-14_744-3del 
Exon or Intron intron 6 
Legacy Exon or Intron intron 6a 
Legacy Name 876-14del12 
Other Details The deletion which probably alters the spice mutation was found in a patient of French origin. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet Mp, Mercier B, Guillermit H   1992-06-22
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (male, 13y) diagnosed at birth. He has mild pulmonary symptoms and also carries deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011