Mutation Details for c.2538G>A

cDNA Name c.2538G>A 
Protein Name p.Trp846X 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name W846X (2670TGG>TGA) 
Other Details This mutation is associated with haplotype A (caucasian) and is not detected in 47 other non-[delta]F508 chromosomes, nor in 11 normal or 37 [delta]F508 chromosomes. 
Contributors Goossens M, Vidaud M   1990-03-22
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Phenotype Information CFTR2
Reference Vidaud et al. 1990 

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The Database was last updated at Apr 25, 2011