Mutation Details for c.3719T>G

cDNA Name c.3719T>G 
Protein Name p.Val1240Gly 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name V1240G 
Other Details This mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in a patient with lung disease and pancreatic insufficiency. [delta]F508 was found on the other chromosome. 
Contributors Zielenski J, Aznarez I, Tsui L-C Hughes D   1999-06-07
Institute The Hospital for Sick Children Toronto, Canada IWK Grace Health Center Halifax, Nova Scotia, Canada 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011