Mutation Details for c.3189G>A

cDNA Name c.3189G>A 
Protein Name p.Trp1063X 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name W1063X 
Other Details This mutation cannot be detected by restriction enzyme analysis and they have been observed only once among 65 non-[delta]F508 CF chromosomes. 
Contributors Goossens M, Fanen P, Ghanem N, Martin J   1991-03-27
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The W1063X was found in a male individual also carrying 1811+1,6kbA>G on the other allele. (pers. corr. Girodon)  
Reference Fanen et al. 1992 

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The Database was last updated at Apr 25, 2011