Mutation Details for c.1116+17C>T

cDNA Name c.1116+17C>T 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1248+17C->T 
Other Details This sequence variation was found between intron and exon 7 and 8 in a CF patient who has an unidefined mutation on one chromosome, and [delta]F508 on the other. It is a C->G polymoporphism, but as there is an outside chance that this might affect splicing of exon 7. At present we have no evidence from the transcript that there is any aberrant splicing.  
Contributors Harris A   1990-11-29
Institute United Medical & Dental Schools of Guy's & St. Thomas's Hospitals London, England 
Submitted Phenotype Details  
Reference Harris (NL#29) 

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The Database was last updated at Apr 25, 2011