Mutation Details for c.3353C>G

cDNA Name c.3353C>G 
Protein Name p.Ser1118Cys 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name S1118C 
Other Details The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Canadian CBAVD patient (second mutation: [delta]F508). 
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Vaze D   1999-03-04
Institute The Hospital for Sick Children, Toronto, Canada Health Science Centre, Janeway Child Health Care, St. John's Canada 
Submitted Phenotype Details The mutation was found in a CBAVD patient, carrying delta F508 on the other allele. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011