Mutation Details for c.1052C>G

cDNA Name c.1052C>G 
Protein Name p.Thr351Ser 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name T351S 
Other Details This change is very likely to be a polymorphism as it was observed on one chromosome of a healthy obligate carrier (the father of a CF child) bearing the R1162X mutation.  
Contributors Ferec C, Quere I, Audrezet MP, Mercier B, Lissens W, Bonduelle M, Liebaers I   1992-10-14
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation is not related to French CF. (pers. corr. Ferec) 
Reference Ferec et al. (NL #49) 

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The Database was last updated at Apr 25, 2011