Mutation Details for c.40A>T
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cDNA Name
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c.40A>T
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Protein Name
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p.Lys14X
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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K14X
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Other Details
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This French patient, 20 years old, is a compound heterozygote carrying a missense mutation, G1061R, on the other chromosome.
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Contributors
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Ferec C,
Verlingue C,
Quere I,
Raguenes O,
Audrezet MP,
Guillermit H,
Mercier B
1993-07-08
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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, 29y) carries G1061R on the other allele.
(pers. corr. Ferec)
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Reference
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Férec et al. (NL#56)
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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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