Mutation Details for c.3009_3017delAGCTATAGC
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cDNA Name
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c.3009_3017delAGCTATAGC
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Protein Name
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p.Ala1004_Ala1006del
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3141del9
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Other Details
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This deletion was found in 3 unrelated Czech CF families with the classical form of the disease. Patient genotypes comprised ?
2x F508del/3141del9 and 1x 574delA/3141del9 (pers. communication Dr. Vavrova and Dr. Honomichlova)
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Contributors
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Stambergova A, Soldatova I, Krepelova A, Zemkova D, Vavrova V, Honomichlova H, Macek Jr. M.
2005-07-13
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Institute
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Institute of Biology and Medical Genetics ? National CF Centre, Charles University Prague and UH Motol, Czech Republic
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Submitted Phenotype Details
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Classical form of the disease.
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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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