Mutation Details for c.2490+2T>C
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cDNA Name
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c.2490+2T>C
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Exon or Intron
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intron 14
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Legacy Exon or Intron
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intron 13
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2622+2T>C
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Other Details
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This mutation was identified at the heterozygous state in the partner of a CBAVD patient. The woman is Algerian.
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Contributors
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E. Girodon, C. Costa, M. Goossens
2004-10-06
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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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Healthy individual.
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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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