Mutation Details for c.2775_2776delTT
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cDNA Name
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c.2775_2776delTT
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Protein Name
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p.Leu926AlafsX48
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2907delTT
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Other Details
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This mutation was found on one CF chromosome of Slovenian origin by SSCP analysis followed by direct sequencing. Patient who carries this mutation is 20 years old with pancreatic insufficiency and is heterozygous for [delta]F508.
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Contributors
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Ravnik-Glavac M,
Glavac D,
Komel R,
Dean M
1992-07-16
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Institute
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National Institutes of Health
Frederick, MD, USA
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Submitted Phenotype Details
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Reference
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Ravnik-Glavac et al. 1993
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