Mutation Details for c.2506G>T
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cDNA Name
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c.2506G>T
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Protein Name
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p.Asp836Tyr
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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D836Y
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Other Details
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This mutation was found in a French adult patient. The defect on the other chromosome is not yet characterized.
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Contributors
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Ghanem N,
Goossens M
1992-06-29
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Institute
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Centre Hospitalier Universitaire Henri Mondor
Creteil, France
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Submitted Phenotype Details
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The mutation was found in a 30 year-old female, diagnosed at 29 years of age, PS, with severe lung disease and negative sweat chloride, nasal polyposis and infertility. (pers. corr. Girodon)
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Reference
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Ghanem & Goossens (NL#47)
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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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