| ARCHETYPE ID | openEHR-EHR-CLUSTER.inversion_variant.v0 |
|---|---|
| Concept | Genetic inversion variant |
| Description | A genetic sequence change where, compared to a reference sequence, more than one nucleotide replacing the original sequence are the reverse complement of the original sequence. |
| Use | Use to record the findings for an inversion variant observed in a genetic sequence according to the HGVS nomenclature. This archetype has been specifically designed to be used in the 'Variant' SLOT within the CLUSTER.genetic_variant archetype, but can also be used within other ENTRY or CLUSTER archetypes, where clinically appropriate. |
| Purpose | To record the details about an inversion variant observed in a genetic sequence according to the HGVS nomenclature. |
| References | den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. PubMed PMID: 26931183. |
| Copyright | © openEHR Foundation |
| Authors | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-23 |
| Other Details Language | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-23 |
| Other Details (Language Independent) |
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| Keywords | inversion, variation, genetic, genomic, variant |
| Lifecycle | in_development |
| UID | d07dfc51-9359-49c3-9733-f612cc3c7262 |
| Language used | en |
| Citeable Identifier | 1013.1.2345 |
| Revision Number | 0.0.1-alpha |
| items | |
| Start position | Start position: Position of the first nucleotide of the inverted range. |
| End position | End position: Position of the last nucleotide of the inverted range. |
| Inverted sequence | Inverted sequence: The nucleotide sequence of the reference sequence at th given positions. |
| Reference sequence | Reference sequence: The sequence file that has been used as a reference to describe the variant. Include: openEHR-EHR-CLUSTER.reference_ |
| Other contributors | Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany Florian Kaercher, Charité Berlin, Germany Francesca Frexia, CRS4, Italy Gianluigi Zanetti, CRS4, Italy Heather Leslie, Atomica Informatics, Australia (openEHR Editor) Gideon Giacomelli, Charité Berlin, Germany Paolo Uva, CRS4, Italy Silje Ljosland Bakke, Nasjonal IKT HF, Norway (openEHR Editor) Simon Schumacher, HiGHmed, Germany |
| Translators |
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