Mutation Details for c.2818_2819delAC
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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.2818_2819delAC
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Protein Name
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p.Thr940SerfsX34
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Minira Bulgenova and Dr. Gulnara Svjatova–Pediatric Clinic – Medical Genetics Centre, Almaty, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic | - | |
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Submitted Phenotype Details
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5 years old patient from Kazakhstan, F508del on the second alelle.
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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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