Mutation Details for c.3151A>G

cDNA Name c.3151A>G 
Protein Name p.Ile1051Val 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name I1051V 
Other Details The I1051V mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is associated with F508del. 
Contributors Pasquet M.C., Baudis M., Kitzis A.   2004-06-16
Institute Laboratoire de GŽnŽtique Cellulaire et MolŽculaire, CHU de Poitiers, France  
Submitted Phenotype Details  

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The Database was last updated at Apr 25, 2011