Mutation Details for c.2789delG
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.2789delG
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Protein Name
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p.Gly930AspfsX12
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Exon or Intron
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Other Details
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Legacy name: 2921delG
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Contributors and Institutes
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| Stambergova A., Piskáčková T., Krenkova P., Macek Jr. 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 found in one Czech CF patient who was diagnosed at the age of 3 years. Sweat chloride concentration of 80,6 mmol/l. He is chronically infected with Pseudomonas aeruginosa and is pancreatic insufficient. He bears 3840delT on the second CF allele.
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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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