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 Férec 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