Mutation Details for c.2918T>C
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cDNA Name
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c.2918T>C
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Protein Name
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p.Leu973Pro
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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L973P
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Other Details
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This mutation was found in a patient with CBAVD.
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Contributors
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Férec C
1998-01-01
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Submitted Phenotype Details
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The mutation was found in a patient with CBAVD carrying 3041-4A>G on the same allele and the deltaF508 on the other one. (pers. corr. Ferec)
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Reference
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Férec 1998
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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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