Mutation Details for c.443T>C

cDNA Name c.443T>C 
Protein Name p.Ile148Thr 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name I148T 
Other Details This mutation was found in only one CF patient with PI on his maternal chromosome; the change was not found in 81 normal chromosomes and 125 other CF chromosomes. 
Contributors Rininsland F, Bozon D, Tsui LC   1990-12-10
Institute The Hospital for Sick Children Toronto, ON, Canada 
Phenotype Information CFTR2
Reference Bozon et al. 1994 

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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.

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The Database was last updated at Apr 25, 2011