Mutation Details for c.2908+2T>C

cDNA Name c.2908+2T>C 
Exon or Intron intron 17 
Legacy Exon or Intron intron 15 
Legacy Name 3040+2T->C 
Other Details Mutation 3040+2T->C, was identified in a CF patient who carries the [delta]F508 mutation on the other chromosome; this mutation alters the second nucleotide of intron 15 (splicing donor site). The above mutation was identified by DGGE analysis and confirmed by DNA sequencing.  
Contributors Poncin J   1996-08-30
Institute Génétique Humaine, Centre Hôspitalier Universitaire de LIEGE, Liege, Belgium. 
Submitted Phenotype Details  
Reference Poncin (NL#69) 

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The Database was last updated at Apr 25, 2011