Mutation Details for c.1397C>A

cDNA Name c.1397C>A 
Protein Name p.Ser466X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name S466X(TAA) 
Other Details This mutation was found once among 160 CF chromosomes screened for mutations in exon 10. Mutation on the other chromosome of the French CF patient is [delta]F508. 
Contributors Leymarie P, Mittre H   1994-06-24
Institute Laboratoire de Biochimie B Caen, France 
Phenotype Information CFTR2
Reference Leymarie & Mittre (NL#63) 

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The Database was last updated at Apr 25, 2011