Mutation Details for c.217delC
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cDNA Name
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c.217delC
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Protein Name
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p.Leu73PhefsX18
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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347delC
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Other Details
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347delC was found in one French CF patient, with the other mutation being N1303K.
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Contributors
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Chevalier-Porst F,
Bozon D
1995-06-30
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Institute
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Hopital Debrousse
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Submitted Phenotype Details
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347delC was found in a patient also carrying N1303K, born 1990, female, diagnosed at 6 months. (pers. corr. Bozon)
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Reference
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Chevalier-Porst & Bozon (NL#66)
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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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