Mutation Details for c.1494G>C
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cDNA Name
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c.1494G>C
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Protein Name
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p.Met498Ile
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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M498I
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Other Details
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This mutation was identified on one CF chromosome from a patient born in Reunion Island.
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Contributors
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T.Bienvenu, M.Viel, C.Leroy, F Cartault, JF Lesure
2005-11-03
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Institute
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Laboratoire de Biochimie et Genetique Moleculaires, Hopital Cochin, Paris, France
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Submitted Phenotype Details
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This missense mutation has been identified in a girl with meconium ileus at birth. She presents hypertrypsinogenemia (130ng at day3) and a positive sweat test (100 mEq/l). She is bearing the Y122X mutation on the other CF chromosome.
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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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