Mutation Details for c.2077T>C

cDNA Name c.2077T>C 
Protein Name p.Phe693Leu 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name F693L(CTT) 
Other Details This mutation was found on one CF chromosome among 56 Italian CF chromosomes. The patinet is pancreatic insufficient.(Original note Novelli et al. 1992-04-27) NL# 63 2209T/C was also reported as polymorphism by Ferec et al. on 1994-09-16. 
Contributors Novelli G, Sangiuolo F, Dallapiccola B Ferec C, Mercier B, Audrezet MP    1992-04-27
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details F693L (2209T/C) was identified in an Italian CF patient (pers.corr. Ferec) 
Reference Audr├ęzet et al. 1993b 

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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.

  • Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C, Dallapiccola B   Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.   1993 009-010;43(5):295-300




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The Database was last updated at Apr 25, 2011