Mutation Details for c.1784T>C
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cDNA Name
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c.1784T>C
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Protein Name
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p.Met595Thr
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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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M595T
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Other Details
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The M595T mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is present with F508del on the same allele. A559T is present on the other allele .
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Contributors
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Pasquet M.C., Baudis M, Creveaux I., Kitzis A.
2006-01-12
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Institute
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Laboratoire de Genetique Cellulaire et Moleculaire, CHU de Poitiers, France
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Submitted Phenotype Details
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Sweet test : 108mEq/L.
Digestive predominant form.
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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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