Mutation Details for c.1227delT

cDNA Name c.1227delT 
Protein Name p.Phe409LeufsX33 
Exon or Intron exon 10 
Other Details  
Contributors and Institutes
CABET/BEY-OMAR F. - Hospices civils de Lyon
PLOYE F. - Hospices civils de Lyon
MOREL Y. - Hospices civils de Lyon
Submitted Phenotype Details This mutation was identified in trans of F508del in a fetus presenting an hyperechogenic bowel at 23 weeks of pregnancy. It was indeed transmitted from the mother. 

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The Database was last updated at Apr 25, 2011