Mutation Details for c.889C>T

cDNA Name c.889C>T 
Protein Name p.Arg297Trp 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R297W 
Other Details Missense mutation R297W was identified in a Vietnamese CBAVD patient who is heterozygous for R297W and for the 5T allele. Both chromosomes also carry the Q1352H missense variant in exon 22. 
Contributors Dörk T, Frye H, Stuhrmann M   1997-06-20
Institute Medizinische Hochschule Hannover, Hannover, Germany 
Submitted Phenotype Details One male patient with CBAVD, carrying the 5T mutation on the other allele, he is PS. (pers. corr. Doerk) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011