Mutation Details for c.543_546delTAGT
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cDNA Name
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c.543_546delTAGT
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Protein Name
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p.Leu183PhefsX5
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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675del4
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Other Details
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The mutation was identified in a French CF patient with [delta]F508 on the other chromosome.
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Contributors
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Bozon D
1998-03-19
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Institute
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Hopital Debrousse,
Lyon, France
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Submitted Phenotype Details
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The patient carrying deltaF508 on the other allele has died. No clinical information is available. (pers. corr. Bozon)
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Reference
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Bozon (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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