Mutation Details for c.3205G>A

cDNA Name c.3205G>A 
Protein Name p.Gly1069Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name G1069R 
Other Details This mutation was identified in a Bulgarian patient in collaboration with Dr. Kalaydjieva et al. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier    1992-11-06
Institute Centre de Transfusion Snaguine et de Biogenetique Brest, Franc 
Phenotype Information CFTR2
Reference Savov et al. 1994a 

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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.

  • Bombieri C, Luisetti M, Belpinati F, Zuliani E, Beretta A, Baccheschi J, Casali L, Pignatti PF   Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.   2000 009;8(9):717-20

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The Database was last updated at Apr 25, 2011