Mutation Details for c.1054C>T

cDNA Name c.1054C>T 
Protein Name p.Arg352Trp 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R352W 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy referred by West Midlands Regional Genetics Service, and whose other CF mutation was [delta]F508. We have seen it only once in over 150 samples tested. 
Contributors Byrne K, Malone G, Haworth A, Schwarz M   1996-06-28
Institute Royal Manchester Children's Hospital, England. 
Submitted Phenotype Details The patient carries DelF508 on the other allele. (pers. corr. Schwarz) 
Reference Byrne et al. (NL#69) 

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The Database was last updated at Apr 25, 2011