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cDNA Name
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c.2290_2300delCGAAGGAGGCA
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Protein Name
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p.Arg764ValfsX11
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Exon or Intron
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Other Details
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Mutation identified by Sanger sequencing and also verified by independent size analysis.
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Contributors and Institutes
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| Dr. Christopher Konialis | - | Department of Molecular Genetics and Genomics | | InterGenetics - Diagnostic Genetic Center | - | Athens, Greece |
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Submitted Phenotype Details
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Male carrier, unaffected. His brother has affected child and initially reported with the 2418GG>T mutation (see mutation details for c.2286G>T).
Therefore, the c.2286G>T(2418GG>T) mutation should be corrected to c.2290_2300delCGAAGGAGGCA.
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Reference
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