Mutation Details for c.3140_3366dupGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACA
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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.3140_3366dupGCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAAGCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACA
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Protein Name
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p.Gly1123AlafsX13
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Exon or Intron
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Other Details
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Deletion was found by NGS CFTR Devyser kir, confirmed with MLPA MRC Holland
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Contributors and Institutes
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| mgr. Malgorzata Libik, PhD,Faculty Hospital Motol, Czech Republic,Dr. Tamas Liviu: „Victor Babes Univ.of Medicine and Pharmacy – Timisoara, Romania, Prof. Milan Macek PhD,Faculty Hospital Motol, Czech Republic | - | |
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Submitted Phenotype Details
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Romanian patient, with N1303K 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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