| ARCHETYPE ID | openEHR-EHR-CLUSTER.translocation_variant.v0 |
|---|---|
| Concept | Genetic translocation variant |
| Description | Translocation variant. |
| Use | Use to record the findings for a traslocation 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 a translocation variant observed in a genetic sequence. |
| References | |
| Copyright | © openEHR Foundation |
| Authors | Author name: Gideon Giacomelli Organisation: Charité Berlin, Germany Email: gideon.giacomelli@charite.de Date originally authored: 2019-02-01 |
| Other Details Language | Author name: Gideon Giacomelli Organisation: Charité Berlin, Germany Email: gideon.giacomelli@charite.de Date originally authored: 2019-02-01 |
| Other Details (Language Independent) |
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| Keywords | |
| Lifecycle | in_development |
| UID | 1aebc5e5-a63d-4963-b7c2-426129264124 |
| Language used | en |
| Citeable Identifier | 1013.1.2350 |
| Revision Number | 0.0.1-alpha |
| items | |
| Breakpoint position 1 | Breakpoint position 1: Position of first breakpoint relative to start of "Chromosome 1". |
| Strand 1 | Strand 1: A value of "+" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment at the first breakpoint right of "Breakpoint position 1". A value of "-" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment of the first breakpoint left of "Breakpoint position 1". |
| Reference sequence 1 | Reference sequence 1: Chromosome of first breakpoint. Include: openEHR-EHR-CLUSTER.reference_ |
| Breakpoint position 2 | Breakpoint position 2: Position of second breakpoint relative to start of "Chromosome 2". |
| Strand 2 | Strand 2: A value of "+" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment at the second breakpoint right of "Breakpoint position 2". A value of "-" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment of the second breakpoint left of "Breakpoint position 2". |
| Reference sequence 2 | Reference sequence 2: Chromosome of second breakpoint. Include: openEHR-EHR-CLUSTER.reference_ |
| HGVS term | HGVS term: The description of the variant using the recommendations of the accepted HGVS nomeclature named extension ISCN. |
| Other contributors | Cecilia Mascia, CRS4, Italy 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) Paolo Uva, CRS4, Italy Silje Ljosland Bakke, Nasjonal IKT HF, Norway (openEHR Editor) Simon Schumacher, HiGHmed, Germany |
| Translators |