Mutation Details for c.3197G>A

cDNA Name c.3197G>A 
Protein Name p.Arg1066His 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name R1066H 
Other Details This mutation was found on one CF chromosome, the other haplotype carries an unidentified mutation. The child is twenty years old, pancreatic sufficient, that missense mutation could be considered as a mild allele. 
Contributors Mercier B, Audrezet MP, Quere I, Guillermit H, Verlingue C   1991-09-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference FĂ©rec et al. 1992 

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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