Mutation Details for c.1040G>A

cDNA Name c.1040G>A 
Protein Name p.Arg347His 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R347H 
Other Details The patient is of Italian origin and carries the [delta]F508 mutation on the other chromosome. Initially we thought this was the same mutation as R347 because it destroys the same hhai site; however, R347H does not create the NcoI site. 
Contributors Devoto M, Ronchetto P, Romeo G   1991-06-10
Institute Istituto Giannina Gastini Genoa, Italy 
Phenotype Information CFTR2
Reference Cremonesi et al., 1992 

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The Database was last updated at Apr 25, 2011