Mutation Details for c.627A>G

cDNA Name c.627A>G 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name 759A/G (A209A)) 
Other Details This polymorphism were found by DGGE and direct DNA sequencing in a CF patient. This polymorphism was also reported in a Scottish CF patient who is heterozygous for [delta]F508 and whose second mutation is as yet unidentified, by Andrew et al. on 22/12/1999. It was also found in a CF patient by FĂ©rec et al., 20/12/2000 It was also reported in a CBAVD patient (heterozygous with [delta]F508) by Shaw et al. 28/11/2001 
Contributors Casals T, Ramos M D, Jimenez J, Nunes V, Estivill X   1998-12-31
Institute IRO Barcelona, Spain 
Submitted Phenotype Details No additional phenotype details are available. 
Reference Casals et al. 1998 

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The Database was last updated at Apr 25, 2011