Mutation Details for c.3196C>T

cDNA Name c.3196C>T 
Protein Name p.Arg1066Cys 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name R1066C 
Other Details This mutation cannot be detected by restriction enzyme analysis, and they have been observed only once among 65 non-[delta]F508 CF chromosomes. 
Contributors Goossens M, Fanen P, Ghanem N, Martin J   1991-03-27
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Montpellier, France 
Phenotype Information CFTR2
Reference Fanen et al. 1992 

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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.

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The Database was last updated at Apr 25, 2011