Mutation Details for c.3047T>C
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cDNA Name
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c.3047T>C
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Protein Name
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p.Phe1016Ser
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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F1016S
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Other Details
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This mutation was identified in a Hispanic female (three year old) patient who carries another novel mutation, the 1285_1288dupTA on the other chromosome.
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Contributors
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Alper …., Wong LJC., Kharrazi M.
2004-06-16
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Institute
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Institute for Molecular and Human Genetics, Georgetown University, School of Medicine
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Submitted Phenotype Details
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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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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