Mutation Details for c.1220A>T

cDNA Name c.1220A>T 
Protein Name p.Glu407Val 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name E407V 
Other Details The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Canadian CF patient (second mutation: unknown). 
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Lands L   1999-03-04
Institute The Hospital for Sick Children, Toronto, Canada The Montreal Children's Hospital, Montreal, 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