Mutation Details for c.1418delG
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cDNA Name
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c.1418delG
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Protein Name
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p.Gly473GlufsX54
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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1548delG
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Other Details
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frameshift mutation 1548delG was detected in a Saudi-Arabian CF family where the father carried 1548delG and the mother N1303K.
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Contributors
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Dörk T,
El-Harith E-H A,
Schmidtke J,
Stuhrmann M
1996-11-21
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Institute
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Institut fur Humangenetik,
Medizinische Hachschule Hannover,
Hannover, Germany
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Phenotype Information
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CFTR2
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Reference
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Dörk et al. (NL#69)
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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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