Mutation Details for c.1397C>G

cDNA Name c.1397C>G 
Protein Name p.Ser466X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name S466X(TAG) 
Other Details A new nomenclature is assigned to this mutation which was published in 1994. 
Contributors    1998-04-07
Phenotype Information CFTR2
Reference Deufel et al. 1994 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Deufel A, Deufel T, Golla A, Achatz H, Bertele-Harms R, Roscher AA, Meitinger T   Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.   1994;3(1):64-6

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The Database was last updated at Apr 25, 2011