Mutation Details for c.2645G>A
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cDNA Name
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c.2645G>A
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Protein Name
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p.Trp882X
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Exon or Intron
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exon 16
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Legacy Exon or Intron
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exon 14b
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W882X
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Other Details
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The above mutation was found on one CF chromosome in a patient of Belgian origin by DGGE screening and DNA sequencing.
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Contributors
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Férec C,
Mercier B,
Quere I,
Lissens W,
Bonduelle M,
Liebaers
1995-07-26
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Institute
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Centre de Transfusion Sanguine et de Biogénétique,
Brest, France
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Submitted Phenotype Details
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The mutation was found in a carrier for CF. No clinical data available.(pers.corr. Ferec)
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Reference
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Férec et al (NL#67)
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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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