Mutation Details for c.3391A>G

cDNA Name c.3391A>G 
Protein Name p.Ile1131Val 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name 3523A->G 
Other Details This variant was found by DGGE analysis and characterized by DNA sequencing. It was found in a sample of 100 CFTR genes from 50 apparently healthy random individuals from Central Italy. 
Contributors Giorgi S, Ciminelli B M, Tandoi C, Modiano G   1999-06-17
Institute Department of Biology Tor Vergata University, Rome, Italy 
Submitted Phenotype Details The mutation was identified in an adult male patient studied for thalasemia carrying M470V on the other allele. (pers. corr. Giorgi) 
Reference Giorgi et al. 1999 

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The Database was last updated at Apr 25, 2011