Mutation Details for c.1133A>G

cDNA Name c.1133A>G 
Protein Name p.Gln378Arg 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name Q378R 
Other Details  
Contributors Tzetis M.,   2002-01-01
Institute Department of Medical Genetics University of Athens St Sophia's Children's Hospital 
Submitted Phenotype Details The mutation was identified in a patient (male, 4y) diagnosed at 8 months of age. He was diagnosed with rectal prolapse, is PI and presented with meconium ileus at birth. The other CFTR mutation is unknown. (pers. corr. Tzetis) 

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The Database was last updated at Apr 25, 2011