Mutation Details for c.215C>A
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cDNA Name
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c.215C>A
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Protein Name
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p.Ala72Asp
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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A72D
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Other Details
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The above mutation was detected by DGGE and direct sequencing, and confirmed by the presence of a new MaeII site. It was found with [delta]F508 on the other CF chromosome of a patient with severe CF.
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Contributors
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Le Gall J Y,
Jézéquel P,
Blayau M
1996-05-10
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Institute
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Université de Rennes 1,
France
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Submitted Phenotype Details
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Reference
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Le Gall et al. (NL#68)
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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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