Mutation Details for c.1670delC

cDNA Name c.1670delC 
Protein Name p.Ser557PhefsX2 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1802delC 
Other Details The above mutation was found in a CF patient of French origin. 
Contributors Férec C, Verlingue C, Mercier B, Quere I   1996-03-12
Institute Centre de Transfusion Sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was identified in a Belgian CF patient. (pers.corr. Ferec) 
Reference Férec et al. (NL#68) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011