Mutation Details for c.1472G>C
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cDNA Name
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c.1472G>C
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Protein Name
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p.Cys491Ser
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Exon or Intron
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exon 11
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Other Details
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Contributors and Institutes
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| Myrto Poulou | - | Department of Medical Genetics, Athens University | | Emmanuel Kanavakis | - | Department of Medical Genetics, Athens University | | Maria Tzetis | - | Department of Medical Genetics, Athens University |
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Submitted Phenotype Details
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This change has been identified through DGGE and direct sequencing, while screening a male presenting with CBAVD. No other change was identified after screening all the coding regions
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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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