Mutation Details for c.1882G>C

cDNA Name c.1882G>C 
Protein Name p.Gly628Arg 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name G628R(G->C) 
Other Details It's a missense mutation which is caused by a substitution of a G to a C at nucleotide position 2014 therby replacing Gly to Arg at amino acid position 628. This mutation has been detected once among 46 unrelated Belgian CF chromosomes.  
Contributors Cuppens H, Marynen P, Cassiman JJ   1992-06-15
Institute University of Leuven Leuven, Belgium 
Submitted Phenotype Details one male patient (19), diagnosed at 9 mths,no meconium ileus,PS, mild pulmonary disease, sweat chloride 64 mEq/l (pers. corr. De Boeck)  
Reference Cuppens et al. 1993 

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The Database was last updated at Apr 25, 2011