Mutation Details for c.3564G>A

cDNA Name c.3564G>A 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name 3696G/A 
Other Details The polymorphism was detected by SSCP analysis and identified by direct DNA sequencing. The polymorphism was found in a possible cystic fibrosis patient from Singapore (ethnic origin unknown) who has no mutations identified. We have seen this polymorphism only once in over 200 non-[delta]F508 chromosomes screened. 
Contributors Malone G M Andrew N, Schwarz M   1999-02-11
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details One female patient carries the 3696G/A polymorphism. (pers. corr. Schwarz) 
Reference Malone et al. 1999 

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The Database was last updated at Apr 25, 2011