Mutation Details for c.2044delA
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cDNA Name
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c.2044delA
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Protein Name
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p.Thr682GlnfsX40
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Exon or Intron
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exon 14
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Other Details
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Contributors and Institutes
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| Krenkova P. | - | Departement of Biology and Medical Genetics, Cystic Fibrosis Centre | | Balascakova M. | - | Departement of Biology and Medical Genetics, Cystic Fibrosis Centre | | Piskackova T. | - | Departement of Biology and Medical Genetics, Cystic Fibrosis Centre | | Macek Jr. M. | - | Departement of Biology and Medical Genetics, Cystic Fibrosis Centre |
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Submitted Phenotype Details
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Czech female patient, diagnosed at 3.5 years of age, at 2 years rectal prolapse. Sweat chloride level 79,4...89,8 mmo/l, PI, clubbing fingers, bronchiectasy, air trapping (on HRCT), colonized with Pseudomonasis aeruginosa. The other mutant allele is p.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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