Mutation Details for c.3367+2T>C

cDNA Name c.3367+2T>C 
Exon or Intron intron 20 
Legacy Exon or Intron intron 17b 
Legacy Name 3499+2T->C 
Other Details A mutation at 3499+2 T->C which may affect the splice site, in a CF patient who carries a [delta]F508 on the other chromosome. The mutation has been confirmed by dot blots with a specific oligonucleotide. 
Contributors Creegan R, Edkins E   1994-11-21
Institute null 
Submitted Phenotype Details  
Reference Creegan & Edkins (NL#64) 

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The Database was last updated at Apr 25, 2011