Mutation Details for c.3151A>G
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cDNA Name
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c.3151A>G
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Protein Name
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p.Ile1051Val
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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I1051V
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Other Details
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The I1051V mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is associated with F508del.
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Contributors
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Pasquet M.C., Baudis M., Kitzis A.
2004-06-16
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Institute
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Laboratoire de GŽnŽtique Cellulaire et MolŽculaire, CHU de Poitiers, France
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Submitted Phenotype Details
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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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