Mutation Details for c.647G>A

cDNA Name c.647G>A 
Protein Name p.Trp216X 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name W216X 
Other Details The mutation was found by using SSCP analysis and direct sequencing. It was detected in one of the CFTR alleles of a single Japanese patient with CBAVD. The patient has another mutation Q1352H in the other allele.  
Contributors Yoshimura K   1999-03-15
Institute Department of Gene Therapy Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan 
Submitted Phenotype Details The mutation was found in a 31 years old male patient with CBAVD, who is PS with no lung disease. (pers. corr. Yoshimura) 
Reference Yoshimura 1999 

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The Database was last updated at Apr 25, 2011