Mutation Details for c.1763A>T
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cDNA Name
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c.1763A>T
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Protein Name
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p.Glu588Val
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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E588V
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Other Details
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This mutation was identified by DGGE method and direct sequencing.
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Contributors
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Alonso MJ, Telleria J, Fernandez I, Blanco A.
2005-08-23
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Institute
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Instituto de Biolog?a y Gen?tica Molecular (IBGM)
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Submitted Phenotype Details
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This mutation was identified in a 26 years-old spanish male affected by CBAVD,
bronchiectasis and positive sweat test (101mmol). The patient carries F508del
mutation in the other chromosome.
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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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