Mutation Details for c.424delA

cDNA Name c.424delA 
Protein Name p.Ile142PhefsX11 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 556delA 
Other Details A frameshift mutation in exon 4 was found in a single CF chromosome. It was not found in 31 other CF chromosomes and 30 N chromosomes. The mutation creates a BgI I site. 
Contributors Kerem B, Zielenski J, Bozon D, Tsui LC   1990-05-04
Institute The Hospital For Sick Children Toronto, ON, Canada 
Submitted Phenotype Details The mutation was found to be associated with PI. (pers. corr. Zielenski) 
Reference Zielenski et al. 1991b 

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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

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The Database was last updated at Apr 25, 2011