Mutation Details for c.4040_4041delGC

cDNA Name c.4040_4041delGC 
Protein Name p.Ser1347ThrfsX11 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4172delGC 
Other Details The second chromosome carries a S1251N in exon 20. The patient is of French origin, 4 years old, and pancreatic insufficient. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B   1993-02-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (female, 13y) who is PI and carries S1251n on the other allele. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#53) 

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