Mutation Details for c.828C>A

cDNA Name c.828C>A 
Protein Name p.Cys276X 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name C276X 
Other Details This mutation was identified by DGGE and direct sequencing. This was identified from a CF chromosome of Italian origin. 
Contributors Ferec C, Quere C, Audrezet MP, Verlingue C, Mercier B, Novelli G, Sanguiolo F, Dallapiccola B   1994-02-14
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a Italian CF patient. (pers.corr. Ferec) 
Reference FĂ©rec et al. 1995 

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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.

  • Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B   Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.   1995 004;9(2):135-7

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The Database was last updated at Apr 25, 2011