Mutation Details for c.3230T>C

cDNA Name c.3230T>C 
Protein Name p.Leu1077Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name L1077P 
Other Details The change was found in a Toronto family (#55). The mutation is on the maternal chromosome with haplotype IIIc. 
Contributors Bozon D, Zielenski J, Rininsland J, Rommens J, Tsui LC   1990-08-30
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.

  • Bozon D, Zielenski J, Rininsland F, Tsui LC   Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.   1994;3(3):330-2

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The Database was last updated at Apr 25, 2011