Mutation Details for c.197A>G

cDNA Name c.197A>G 
Protein Name p.Asn66Ser 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name N66S 
Other Details This mutation has been detected in a denaturing gradient gel and characterized by direct sequencing. It has been obeserved in a 20 year old male student, heterozygous for [delta]F508 and exoressing very mild symptoms of the disorder. 
Contributors Cashman S, De Arce M, Hayes J   1993-04-22
Institute University of Dublin 
Submitted Phenotype Details  
Reference Cashman et al. (NL#55) 

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The Database was last updated at Apr 25, 2011