Mutation Details for c.3367+3A>G

cDNA Name c.3367+3A>G 
Exon or Intron intron 20 
Legacy Exon or Intron intron 17b 
Legacy Name 3499+3A->G 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and identified by direct sequencing. The mutation was seen only once in over 20 non-[delta]F508 chromosome screened. 
Contributors Haworth A, Malone G, Schwarz M   1996-02-29
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient (female, born in Feb 1980) carries DeltaF508 on the other allele. (pers. corr. Schwarz) 
Reference Haworth et al. (NL#68) 

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The Database was last updated at Apr 25, 2011