Mutation Details for c.3367+37G>A

cDNA Name c.3367+37G>A 
Exon or Intron intron 20 
Legacy Exon or Intron intron 17b 
Legacy Name 3499+37G/A 
Other Details This polymoprhism is caused by a substitution of a A to an A at nucleotide position 3499+37:3499+37G->A. This polymoporphism has been detected once among 58 unrelated Belgian CF chromosomes. 
Contributors Cuppens H, Marynen P, Cassiman JJ   1992-05-11
Institute University of Leuven Leuven, Belgium 
Submitted Phenotype Details The mutation was found in a PS individual also carrying the P1290P polymorphism. Most likely this is not a CF patient, but since there is no follow up of this patient it is not clear if she has a CFTR-related disease. (pers. corr. Cuppens) 
Reference Cuppens et al. (NL#45) 

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The Database was last updated at Apr 25, 2011