Mutation Details for c.3188_3189insCTATG
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cDNA Name
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c.3188_3189insCTATG
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Protein Name
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p.Trp1063CysfsX22
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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3320ins5
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Other Details
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It is a 5 nucleotide insertion CTATG after nucleotide position 3320. That insertion creates a stop codon (TGA) 38 nucleotides after the 3320 position. The child is 10 years old, PS with meconium ileus at birth. He carries the [delta]F508 on the other chromosome. He is considered as severe form of the disease.
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Contributors
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Mercier B,
Audrezet MP,
Quere I,
Guillermit H,
Verlingue C,
Ferec C
1991-09-16
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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 (male, 20y) was diagnosed in infancy, had meconium ileus at birth and is PI. He carries deltaF508 on the other allele.(pers.corr.Ferec)
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Reference
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Férec et al. 1992
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