Mutation Details for c.1219G>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.1219G>T 
Protein Name p.Glu407X 
Exon or Intron  
Other Details  
Contributors and Institutes
Jingyi Sun - Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine
  
Submitted Phenotype Details c.1219G>T(p.Glu407*) was found along with c.2551C>T (p.Arg851* ) on the other allele in a 3y F diagnosed as CF with bronchiectasis, sinusitis, recurrent pneumonia and malnutrition. She had meconium ileus during the neonatal period. 
Reference  

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The Database was last updated at Apr 25, 2011