Mutation Details for c.1475C>T

cDNA Name c.1475C>T 
Protein Name p.Ser492Phe 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name S492F 
Other Details The nucleotide change destroys a DdeI site in the PCR product obtained with 10i3 and 10i5. We have found it on one CF chromosomes among 87 tested through DGGE and DNA sequencing. The patient is 20 years old and PS, he carries the [delta]F508 on the other chromosome. 
Contributors Ferec C, Guillermit H, Quere I, Verlingue C   1991-07-01
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference FĂ©rec et al. 1992 

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The Database was last updated at Apr 25, 2011