Difference between revisions of "Biomarkers"
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=Alterations= | =Alterations= | ||
==SNV== | ==SNV== | ||
| − | XREF | + | XREF [http://www.sequenceontology.org/browser/current_release/term/SO:0001483 SO:0001483] |
| − | [http://www.sequenceontology.org/browser/current_release/term/SO:0001483 SO:0001483] | ||
SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. | SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. | ||
Revision as of 23:30, 8 January 2020
Genes
BCR-ABL1
BRAF
EGFR
HER2
PML-RARα
Gene categories
BRCA
HR
Chromosomal regions
1p19q
15;17
17p
Alterations
SNV
XREF SO:0001483
SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist.
Substitution
XREF SO:1000002
A sequence alteration where the length of the change in the variant is the same as that of the reference.
Structural variant
XREF SO:0001537
A sequence variant that changes one or more sequence features.
Copy number variation
Amplification
Deletion
Insertion
Expression
Overexpression
Underexpression
Normal expression
Rearrangement
Synonyms: fusion, translocation
Methylation
Hypermethylation
Hypomethylation
Positive
Negative
Germline
Somatic
Synonyms: tumor, acquired