Mutation Details for c.3846G>A

cDNA Name c.3846G>A 
Protein Name p.Trp1282X 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name W1282X 
Other Details The stop mutation has been discovered in a French individual with a severe form of the disease, originating from Brittany and having the [delta]F508 defect on the other chromosome. This substitution has been found once among 48 CF chromosomes tested. 
Contributors Goossens M, Vidaud M   1990-02-22
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Phenotype Information CFTR2
Reference Vidaud et al. 1990 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011