Mutation Details for c.3266G>A

cDNA Name c.3266G>A 
Protein Name p.Trp1089X 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name W1089X 
Other Details The mutation is a G->A subsitution at nucleotide position 3398. This mutation should create a termination signal at amino acid 1089 (W1089X). The mutation was found by direct sequencing and does not create or destryo a restriction site. The chromosome carrying this mutation is of Jewish Turkish origin. It was not found in 22 other CF chromosomes. 
Contributors Shoshani T, Bashan N, Kerem B   1991-11-14
Institute The Hebrew University of Jersualem 
Phenotype Information CFTR2
Reference Shoshani et al. 1994 

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The Database was last updated at Apr 25, 2011