Mutation Details for c.3587C>G

cDNA Name c.3587C>G 
Protein Name p.Ser1196X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name S1196X 
Other Details This mutation destroy an EcoRI site, and was found in one Russian patient. 
Contributors Ivaschenko T, Baranov V, Dean M   1991-12-05
Institute National Institutes of Health Frederick, MD, USA 
Phenotype Information CFTR2
Reference Ivaschenko et al. 1993 

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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.

  • Ivaschenko TE, Baranov VS, Dean M   Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.   1993 003;91(1):63-5
  • Petrova NV, Kapranov NI, Ginter EK   [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].   1997 001;33(1):106-9
  • Will K, Dork T, Stuhrmann M, von der Hardt H, Ellemunter H, Tummler B, Schmidtke J   Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.   1995;5(3):210-20

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The Database was last updated at Apr 25, 2011