Mutation Details for c.881_882delAA
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cDNA Name
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c.881_882delAA
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Protein Name
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p.Lys294ThrfsX13
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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1013delAA
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Other Details
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This mutation was detected by chemical mismatch cleanage and direct sequencing. The mutation is a frameshift in exon 7 of the CFTR gene. This mutation can be detected using ASOs: normal 5'AGAACTGAAACTGACTC 3', mutant 5' CAGAACTGACTGACTCG 3', with final wash at 41 C in 40 mM NaHPO4, 1mM EDTA, 0.5% SDS for 15 minutes. The mutation was found in a caucasioan CF patient who has a [delta]F508 mutation on the other chromosome. He is pancreatic sufficient. This mutation was not found in 18 normal chromosomes and 18 CF chromosomes, also it not found in 18 normal chromsomes and 18 CF chromosomes, also it was not detected in foru CF patients with genotype [delta]F508/unknown.
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Contributors
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Nasr S,
Strong T,
Collins F
1993-10-11
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Institute
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University of Michigan
Ann Arbor, MI, USA
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Submitted Phenotype Details
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Reference
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Nasr et al. 1994
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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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