Mutation Details for c.1135G>T
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cDNA Name
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c.1135G>T
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Protein Name
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p.Glu379X
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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E379X
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Other Details
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This mutation was found in one CF patient of Greek origin who carried the G542X allele on the second CF chromosome.
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Contributors
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Glaeser D,
Mehnert K
2000-08-14
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Institute
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Laboratory of Medical Genetics
Neu-Ulm, Germany
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Submitted Phenotype Details
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Reference
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Glaeser & Mehnert 2000
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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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