Mutation Details for c.1477C>T

cDNA Name c.1477C>T 
Protein Name p.Gln493X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name Q493X 
Other Details The mutation occurs on a CF chromosome with haplotype IIIb. It is not found in 28 normal chromosomes, nor in 33 other CF chromosomes. 
Contributors Kerem B, Zielenski J, Tsui LC   1990-03-26
Institute The Hospital for Sick Children Toronto, Ontario 
Phenotype Information CFTR2
Reference Kerem 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.

  • Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P   Genetic determination of exocrine pancreatic function in cystic fibrosis.   1992 006;50(6):1178-84
  • Maldonado-Rodriguez R, Espinosa-Lara M, Calixto-Suarez A, Beattie WG, Beattie KL   Hybridization of glass-tethered oligonucleotide probes to target strands preannealed with labeled auxiliary oligonucleotides.   1999 002;11(1):1-12
  • Phillips OP, Elias S, Woods D, Hanissian AS, Schoumacher RA, Bishop C   Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening.   1993 004;168(4):1076-82

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The Database was last updated at Apr 25, 2011