Mutation Details for c.2991G>C

cDNA Name c.2991G>C 
Protein Name p.Leu997Phe 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name L997F 
Other Details Leu or Phe at 997 and Ile or Thr at 1027. 3123G/C & 3212T/C were reported as polymorphisms by Fanen et al. in 1992 T to C at 3212 was also reported as I1027T (Ile to Thr at 1027) by Andrew et al. on 2001-01-25. This was seen in a CF patient whose other mutation is [delta]F508. 
Contributors Fanen   1992-01-01
Institute Creteil, France 
Phenotype Information CFTR2
Reference Fanen et al. 1992 

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The Database was last updated at Apr 25, 2011