Mutation Details for c.3292T>C

cDNA Name c.3292T>C 
Protein Name p.Trp1098Arg 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name W1098R 
Other Details The mutation has been found in one among 352 chromosomes (60 normal chromosomes, 142 CF chromosomes identified mutation and 150 CF chromosomes with unknown mutation). Mutation on the other chromosome is [delta]F508. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1992-08-17
Institute The Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. 1995 

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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.

  • Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC   Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1995;5(1):43-7

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The Database was last updated at Apr 25, 2011