Mutation Details for c.3469_3716dupATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAACCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACAGAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAG
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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.3469_3716dupATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAACCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACAGAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAG
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Protein Name
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p.Val1240CysfsX4
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Exon or Intron
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Other Details
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Duplication found by NGS CFTR Devyser kit, confirmed by MLPA MRCA Holland
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Contributors and Institutes
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| mgr. Malgorzata Libik, PhD, Faculty Hospital Motol,Czech Republic, Dr. Jadranka Sertic – Zagreb Medical University, Crotia,Prof. Milan Macek, Faculty Hospital Motol, Czech Republic | - | |
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Submitted Phenotype Details
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Croatian patient, F508del on the second 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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