Mutation Details for c.1489A>G
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cDNA Name
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c.1489A>G
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Protein Name
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p.Ile497Val
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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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I497V
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Other Details
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Contributors
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Arduino C.
2002-01-01
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Institute
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Servizio di Genetica Medica, Torino, Italy
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Submitted Phenotype Details
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The male patient (54 years old) was diagnosed when 46 years old. He has no lung disease, is PI and has chronic pancreatitis. There is no other known mutation. (pers.corr. Arduino)
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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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