Mutation Details for c.314T>A
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cDNA Name
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c.314T>A
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Protein Name
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p.Ile105Asn
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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I105N
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Other Details
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This possible mutation was found by DGGE and identified by DNA fluorescent sequencing in a CF patient, who is heterozygous for the mutation Q890X.
This mutation destroys a restriction site for HinfI.
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Contributors
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Claustres M,
Guittard C,
Verellen-Dumoulin C
2000-04-27
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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The CF patient is 38 (female), PI.
Q890X on the other allele.
(pers. corr. Claustres)
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Reference
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Claustres et al. 2000
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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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