Mutation Details for c.1981delA
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cDNA Name
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c.1981delA
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Protein Name
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p.Ile661SerfsX2
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2113delA
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Other Details
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The mutation was identified by DGGE and direct sequencing.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP,
Mercier B
1994-11-15
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
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Submitted Phenotype Details
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The homozygous Turkish CF patient(male, 18 months) was diagnosed at birth (with meconium ileus). He is PI and has severe lung disease. (pers. corr. Ferec and Clavel et al., 1997)
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Reference
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Férec et al. (NL#64)
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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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