Mutation Details for c.1141_1142delAA
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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.1141_1142delAA
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Protein Name
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p.Lys381AspfsX5
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Exon or Intron
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Other Details
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c.1141_1142delAA on both alells
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Contributors and Institutes
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| Mgr. Malgorzata Libik, PhD, Faculty Hospital Motol, Prague, Czech Republic, Dr. Mona El Falaki – Cairo University, Prof. Milan Macek-Faculty Hospital Motol, Prague, Czech Republic | - | |
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Submitted Phenotype Details
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Mutation was found in 9 years old egypthian patient, sweat test 105mmol/L
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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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