Mutation Details for c.2483A>G
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cDNA Name
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c.2483A>G
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Protein Name
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p.Asp828Gly
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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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D828G
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Other Details
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Contributors
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Ferec C.
2002-01-01
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Institute
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Centre de Transfusion Sanguine et de Biogenetique Brest, France
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Submitted Phenotype Details
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The mutation was identified in a 2 year old female with sweat chloride 43-60 mmol/l first suspected of CF at 18 months of age. (pers. corr. Ferec)
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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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