Mutation Details for c.658C>T

cDNA Name c.658C>T 
Protein Name p.Gln220X 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name Q220X 
Other Details This mutation was intially detected by SSCP, and then identified by sequence analysis. The patient has a [delta]F508 on the other chromosome. This mutation was not found on 70 other non-[delta]F508 CF chromosomes. 
Contributors Shackelton S, Harris A   1992-10-22
Institute University of Oxford Oxford, England 
Phenotype Information CFTR2
Reference Shackleton et al. 1994; Schwartz & Holmberg (NL#50) 

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The Database was last updated at Apr 25, 2011