Mutation Details for c.2053C>T
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cDNA Name
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c.2053C>T
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Protein Name
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p.Gln685X
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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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Q685X
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Other Details
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This mutation was identified by DGGE and direct sequencing. It was detected on a Yugoslavian CF chromosome.
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Contributors
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Ferec C,
Quere I,
Mercier B,
Audrezet MP,
Guillermit H,
Verlingue C
1992-08-17
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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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Audrezet et al.,1994 - The mutation was identified in a CF patient diagnosed at 6 years of age; the patient is PI, has lung disease with PA colonisation.
Vouk et al., 2000 and pers.corr. Ferec - The mutation was identified in Slovenian CF patients
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Reference
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Audrézet et al. (NL #48)
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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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