Mutation Details for c.3472C>T

cDNA Name c.3472C>T 
Protein Name p.Arg1158X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name R1158X 
Other Details The patient is pancreatic sufficient, and carries an unknown mutation on the other chromosome. 
Contributors Romeo G, Ronchetto P, Telleria JJ, Devoto M, Fanen P, Goossens M   1991-03-01
Institute Istituto Giannina Gaslini Genoa, Italy 
Phenotype Information CFTR2
Reference Ronchetto 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