Mutation Details for c.2953G>C
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cDNA Name
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c.2953G>C
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Protein Name
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p.Asp985His
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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D985H
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Other Details
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This missense mutation was found by DGGE and identified by direct sequencing in a CF patient from Southern France with [delta]F508 on the other chromosome. The change results in a new NdeII site.
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Contributors
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Claustres M,
Guittard C
1998-08-04
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Institute
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Institut de Biologie Montpellier, France
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Submitted Phenotype Details
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Patient (F) is 27y, has bronchiectasis.
DeltaF508 was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres & Guittard (NL#70)
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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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