Mutation Details for c.1601C>A
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cDNA Name
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c.1601C>A
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Protein Name
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p.Ala534Glu
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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A534E
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Other Details
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A nucleotide change, C->A at position 1733, was detected by DGGE and direct sequencing leading to A534E in exon 11.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Mercier B,
Guillermit H
1992-06-22
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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 French CF patient. (pers.corr. Ferec)
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Reference
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Audrézet et al. 1993a
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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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