Mutation Details for c.112_113delTA
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cDNA Name
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c.112_113delTA
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Protein Name
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p.Tyr38ProfsX6
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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244delTA
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Other Details
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This mutation creates a premature stop 6 codons downstream. The CF patient is French and has R553X on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened.
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Contributors
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Chevalier-Porst F,
Bozon D
1998-07-13
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Institute
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Biochimie, Bat D,
Hopital Debrousse, Lyon, France
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Submitted Phenotype Details
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The mutation was found in a CF patient (male, 3 years old) diagnosed at 5 months of age. He has sweat chloride 101 mmol/l and is PI. He carries R553X on the other allele.(pers. corr. Bozon)
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Reference
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Chevalier-Porst & 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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