Mutation Details for c.2233G>T
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cDNA Name
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c.2233G>T
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Protein Name
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p.Gly745X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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G745X(Gly745X)
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Other Details
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This mutation was detected by dHPLC and direct sequencing in a CF patient.
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Contributors
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T.Bienvenu, M.Viel and C.Leroy
2005-03-22
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Institute
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Laboratoire de Biochimie et Genetique Moleculaire,
Hospital Cochin, Paris, France
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Submitted Phenotype Details
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This French patient was born in 1981 and has the F508del mutation on the other CF chromosome. He presents a classical form of the disease with pancreatic insufficiency.
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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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