Mutation Details for c.2051_2052delAAinsG
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cDNA Name
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c.2051_2052delAAinsG
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Protein Name
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p.Lys684SerfsX38
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2183AA->G
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Other Details
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Note:test A new frameshift mutation (2183AA->G) in exon 13 was found in three unrelated CF patients of Sardinian descent, who are compund heterozygous for T338I, D1270N and S912X respectively, and was detected by DGGE analysis and DNA sequencing. The mutation was reported by Leoni GB, Rosatelli MC, Cao A in 1994.
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Contributors
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Leoni GB,
Rosatelli MC,
Cao A
(1994-01-13)
1994-01-01
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Institute
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Istituto di Clinica e Biologia dell'Eta Evolutiva
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Phenotype Information
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CFTR2
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Reference
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Leoni et al. 1994
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