Mutation Details for c.2777delT
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cDNA Name
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c.2777delT
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Protein Name
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p.Leu926CysfsX16
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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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2909delT
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Other Details
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This mutation is associated with the haplotype A and was found on one of 110 non-[delta]F508 Italian CF chromosomes (Milan and Genova). It was not found on 45 non-[delta]F CF chromosomes.
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Contributors
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Ferrari M,
Cremonesi L,
Goossens M,
Fanen P,
Vidaud M
1990-07-09
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Institute
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Milan, Italy
Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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No clinical info available.(pers. corr. Girodon)
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Reference
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Goossens et al. 1991
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