Mutation Details for c.1687T>C
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cDNA Name
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c.1687T>C
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Protein Name
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p.Tyr563His
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Krenkova P., Macek Jr. M., Balascakova M. | - | Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic |
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Submitted Phenotype Details
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This mutation was detected in one Czech female patient, diagnosed at 2 months of age, PI, anemia, cough, sweat chloride level about 100 mmo/l. The other mutant allele is F508del.
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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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