Mutation Details for c.125C>T

cDNA Name c.125C>T 
Protein Name p.Ser42Phe 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name S42F 
Other Details This mutation was identified on one Italian CF chromosome. 
Contributors Ferec C, Quere I, Audrezet MP, Mercier B, Novelli G, Sanguiolo F, Dallapiccola B   1994-07-19
Institute Center de Transfusion Snaguine et de Biogenetique Brest, France 
Submitted Phenotype Details The Italian CF patient carries DeltaF508 on the other allele. (pers. corr. Ferec) 
Reference FĂ©rec et al. 1995 

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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.

  • Ferec C, Novelli G, Verlingue C, Quere I, Dallapiccola B, Audrezet MP, Mercier B   Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.   1995 004;9(2):135-7

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The Database was last updated at Apr 25, 2011