Mutation Details for c.3418_3420delATG
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cDNA Name
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c.3418_3420delATG
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Protein Name
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p.Met1140del
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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[delta]M1140
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Other Details
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The mutation was identified by DGGE and direct sequencing.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP,
Mercier B
1994-11-15
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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 French CF patient (male, 12y) was diagnosed at 3 years of age. He has positive sweat chloride test results. (pers.corr. Ferec)
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Reference
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Férec et al. (NL#64)
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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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