Mutation Details for c.3494A>C
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cDNA Name
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c.3494A>C
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Protein Name
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p.Lys1165Thr
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Exon or Intron
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exon 22
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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 an 11-years old child presenting with low body weight and recurrent episodes of bronchitis. No other mutation was identified after scanning of exons 3,4,7,10,11,12,13,14b, 15,16,17b,20,21,23
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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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