Mutation Details for c.1528delG
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cDNA Name
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c.1528delG
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Protein Name
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p.Val510PhefsX17
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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1660delG
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Other Details
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This mutation has been identified in a Spanish patient
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Contributors
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J. Gimenez, M.D. Ramos, T. Casals
2006-08-30
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Institute
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CGMM-IRO
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Submitted Phenotype Details
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The individual (male, 22y) has bronchiectasis. He presents the genotype [D1152H] + [1660delG] and borderline sweat test (47-50 nmol/L).
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Reference
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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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