Mutation Details for c.3766_3767insC
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cDNA Name
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c.3766_3767insC
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Protein Name
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p.Leu1258PhefsX7
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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3898insC
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Other Details
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The mutation was found once on 87 non-[delta] chromosomes analyzed through DGGE and direct sequencing. The affected child is 17 years old, with a severe form of the disease. She is PI and she has undergone a lung transplant last year. She carries an exon 19 mutation on the other chromosome.
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Contributors
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Ferec C,
Guillermit H,
Quere I,
Verlingue C
1991-04-18
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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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The French CF patient (female, 28y) is PI, has severe lung disease and sweat chloride 89 mmol/l, and carries R1162X on the other allele. (pers.corr. Ferec)
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Reference
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Audrézet et al. 1993a
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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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