Mutation Details for c.4071_4073delTAGinsAA
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cDNA Name
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c.4071_4073delTAGinsAA
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Protein Name
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p.Ala1357LeufsX?
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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4203TAG->AA
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Other Details
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This frameshift mutation leads to a modification of the following 21 amino acids and to a stop codon at codon 1380 in exon 23. It was found in a male patient having a classical form of CF and carrying [delta]F508 on the other chromosome.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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4203TAG->AA was found in a 12y M diagnosed at 17m, PI, with severe lung disease and positive sweat chloride. he carries deltaF508 on the other allele.(pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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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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