Mutation Details for c.169T>C

cDNA Name c.169T>C 
Protein Name p.Trp57Arg 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name W57R 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a female referred by the West Midland Regional Genetics Service; her other CF mutation is [delta]F508. We have seen it only once in over 200 non[delta]F508 CF chromosomes screened. 
Contributors Malone G, Haworth A, Schwarz M   1997-03-21
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient (female) carries DelF508 ion the other allele. (pers. corr. Schwarz) 
Reference Malone et al. (NL#69) 

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The Database was last updated at Apr 25, 2011