ARCHETYPE Genetic variant - Inversion (openEHR-EHR-CLUSTER.inversion_variant.v1)

ARCHETYPE IDopenEHR-EHR-CLUSTER.inversion_variant.v1
ConceptGenetic variant - Inversion
DescriptionA 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.
UseUse to record the details about an inversion variant of DNA or RNA, 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.
MisuseNot to be used to record a one nucleotide inversion. Use the CLUSTER.substitution_variant archetype for this purpose.
PurposeTo record the details about an inversion variant of DNA or RNA, observed in a genetic sequence according to the HGVS nomenclature.
Referencesden 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.

Sequence Variant Nomenclature - DNA Recommendations - Inversion Variant [Internet]. Human Genome Variation Society. [2019] - [cited 2020-02-26]. Available from: https://varnomen.hgvs.org/recommendations/DNA/variant/inversion/

Sequence Variant Nomenclature - RNA Recommendations - Inversion Variant [Internet]. Human Genome Variation Society. [2019] - [cited 2020-03-04]. Available from: https://varnomen.hgvs.org/recommendations/RNA/variant/inversion/
Copyright© openEHR Foundation
AuthorsAuthor name: Cecilia Mascia
Organisation: CRS4, Italy
Email: cecilia.mascia@crs4.it
Date originally authored: 2017-02-23
Other Details LanguageAuthor name: Cecilia Mascia
Organisation: CRS4, Italy
Email: cecilia.mascia@crs4.it
Date originally authored: 2017-02-23
OtherDetails Language Independent{licence=This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=openEHR Foundation, 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. Sequence Variant Nomenclature - DNA Recommendations - Inversion Variant [Internet]. Human Genome Variation Society. [2019] - [cited 2020-02-26]. Available from: https://varnomen.hgvs.org/recommendations/DNA/variant/inversion/ Sequence Variant Nomenclature - RNA Recommendations - Inversion Variant [Internet]. Human Genome Variation Society. [2019] - [cited 2020-03-04]. Available from: https://varnomen.hgvs.org/recommendations/RNA/variant/inversion/, original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=D5F943A953D80030B2CFB6D03D7B667B, build_uid=dc86ec99-b9d2-4f3b-af29-d2c44f00de28, revision=1.0.0}
Keywordsinversion, variation, genetic, genomic, variant
Lifecyclepublished
UIDee9f2fe2-e652-4324-a289-07eb3b720b89
Language useden
Citeable Identifier1246.145.736
Revision Number1.0.0
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Silje Ljosland Bakke, Helse Vest IKT AS, Norway (openEHR Editor)
Francesca Frexia, CRS4, Italy
Gideon Giacomelli, Charité Berlin, Germany
Christina Jaeger-Schmidt, Heidelberg University Hospital, Germany
Florian Kaercher, Charité Berlin, Germany
Liv Laugen, ​Oslo University Hospital, Norway, Norway
Heather Leslie, Atomica Informatics, Australia (openEHR Editor)
Cecilia Mascia, CRS4, Italy (openEHR Editor)
Ian McNicoll, freshEHR Clinical Informatics, United Kingdom (openEHR Editor)
Andrej Orel, Marand d.o.o., Slovenia
Simon Schumacher, HiGHmed, Germany
Aurelie Tomczak, Uniklinikum Heidelberg, Germany (openEHR Editor)
Paolo Uva, CRS4, Italy
Gianluigi Zanetti, CRS4, Italy
Gyri Aasland Gradek, Haukeland University Hospital, Norway
Asbjørg Stray-Pedersen, Oslo University Hospital, Norway
Toril Fagerheim, University Hospital of Northern Norway, Norway
Camilla F. Skjelbred, Telemark Hospital HF, Norway
Dag Erik Undlien, Oslo University Hospital, Norway
Rune Østern, St Olavs Hospital, Norway, originalLanguage=en, translators=German: Aurelie Tomczak, Institute of Pathology, University Hospital Heidelberg, Germany, au.tomczak@yahoo.com
Norwegian Bokm�l: Liv Laugen, Silje Ljosland Bakke, Oslo University Hospital, Norway, Helse Vest IKT AS, liv.laugen@ous-hf.no, silje.ljosland.bakke@helse-vest-ikt.no
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