Mutation Details for c.721G>A
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cDNA Name
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c.721G>A
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Protein Name
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p.Gly241Arg
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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G241R
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Other Details
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Identified by DGGE and direct sequencing.
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Contributors
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Férec C,
Verlingue C,
Mercier B,
Quere I
1996-07-31
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Institute
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Laboratoire de Biogénétique, Brest, France
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Submitted Phenotype Details
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The mutation was identified in a patient with disseminated bronchiectasis. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#69)
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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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