Mutation Details for c.2437T>C
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cDNA Name
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c.2437T>C
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Protein Name
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p.Ser813Pro
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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S813P
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Other Details
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Contributors
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Tzetis M.,
2002-01-01
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Institute
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Department of Medical Genetics University of Athens St Sophia's Children's Hospital
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Submitted Phenotype Details
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The mutation was identified in 2 twins with very mild phenotype, borderline sweat chloride, carrying D110E on the other allele. (pers.corr. Tzetis)
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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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