Mutation Details for c.490-2A>C

cDNA Name c.490-2A>C 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 622-2A->C 
Other Details This mutation was detected once among 47 Belgian non-[delta]F508 CF chromosomes and is associated with haplotype XV2c/CS7/KM19/D9:1111. 
Contributors Cuppens H, Marynen P, Cassiman JJ   1991-09-20
Institute University of Leuven Leuven, Belgium 
Submitted Phenotype Details The mutation was identified in a patient carrying G542X on the other allele. No additional clinical info is available. (pers. corr. De Boeck) 
Reference Cuppens et al. 1993 

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The Database was last updated at Apr 25, 2011