Mutation Details for c.3047T>C

cDNA Name c.3047T>C 
Protein Name p.Phe1016Ser 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name F1016S 
Other Details This mutation was identified in a Hispanic female (three year old) patient who carries another novel mutation, the 1285_1288dupTA on the other chromosome. 
Contributors Alper …., Wong LJC., Kharrazi M.   2004-06-16
Institute Institute for Molecular and Human Genetics, Georgetown University, School of Medicine 
Submitted Phenotype Details The patient was diagnosed with CF at 4 months of age after presenting with severe failure to thrive (FTT), pneumonia, and gastroesophageal reflux disease (GER). She has mild clubbing, liver dysfunction, and hepatomegaly. 

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The Database was last updated at Apr 25, 2011