Mutation Details for c.1478A>C
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cDNA Name
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c.1478A>C
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Protein Name
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p.Gln493Pro
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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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Q493P
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Other Details
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Contributors
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Tolun A..
2002-01-01
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Institute
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Bogazici University Istanbul, Turkey
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Submitted Phenotype Details
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The CF male patient diagnosed at 3 months of age, succumbed. He had severe lung disease, was PI and had sweat chloride 90 mmol/l. He was homozygous for Q493P. (pers.corr. Kilinc)
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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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