Micro mutation |
Nucleotide change: |
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Reference Sequence in NCBI Traditional nomenclature (position 1 is the first nucleotide of exon 1)
theoretical examples: 16788C>T, 13269delA, 5777_5800del24bp, 8456_8460delCGTAG, 13269ins24bp, 15624insCGA |
Nucleotide change: |
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Reference Sequence in NCBI HUGO nomenclature (position 1 is the first nucleotide of the reference sequence)
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Nucleotide change: |
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Reference Sequence in NCBI CDS nomenclature (position 1 is the first nucleotide of the ATG start codon)
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Position: |
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Molecular consequence: |
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Reference seqence in NCBI Traditional nomenclature (position 1 is the first residue of the secreted protein) e.g.: Arg444Cys, Arg472Stop, Frameshift, Splicing defect, other (use the 3 digit designation for amino acids) |
Molecular consequence: |
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Reference sequence in NCBI Hugo nomenclature (position 1 is the first residue (Met) of the mature protein) e.g.: Arg466Cys, Arg494Stop, fs (use the 3 digit designation for amino acids) |
Effect of the mutation: |
All
Pathogenic
Unknown
Polymorphism
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Owner: |
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Laboratory which described the mutation first |
Notes: |
| Notes of the "Micro mutations" subgroup |
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