Mutation Details for c.2089_2090insA
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cDNA Name
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c.2089_2090insA
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Protein Name
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p.Arg697LysfsX33
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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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2221insA
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Other Details
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The mutation was identified in a CBAVD patient who was also found to carry two CFTR variants, IVS8T5 and 1716A->G. Segregation analysis was not possible.
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Contributors
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E. Girodon, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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Isolated CBAVD
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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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