ISO_639-1
en
false
2017-02-23
Cecilia Mascia
CRS4, Italy
cecilia.mascia@crs4.it
Vebjørn Arntzen, Oslo University Hospital, Norway (openEHR Editor)
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
deprecated
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/.
openEHR Foundation
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/
org.openehr
openEHR Foundation
org.openehr
D397897523A7D5BF82FC4F8E89C390E6
d77cc537-b07f-46cb-985c-e0739dd4382f
1.1.1
ISO_639-1
de
Zur Beschreibung der in einer Sequenz beobachteten 'inversion variant' gemäß der HGVS-Nomenklatur.
Inversion
Variante
genetisch
genomisch
Variation
ISO_639-1
nb
For å dokumentere en inversjonsvariant funnet i en DNA- eller RNA-sekvensering, basert på HGVS nomenklaturen.
inversjon
genetisk variasjon
genetikk
genom
variant
DNA
RNA
kromosom
mutasjon
nukleotid
Skal ikke brukes for å dokumentere en inversjon av et enkelt nukleotid (enkeltbaseforskjell), bruk CLUSTER.substitution_variant (Genetisk substitusjonvariant) arketypen til dette.
ISO_639-1
en
To record the details about an inversion variant of human DNA, observed in a genomic sequence.
inversion
variation
genetic
genomic
variant
Not to be used to record information about variants of non-human DNA, or any kind of RNA or protein.
Not to be used to record a one nucleotide inversion. Use the CLUSTER.substitution_variant archetype for this purpose.
© openEHR Foundation
ISO_639-1
de
Aurelie Tomczak
Institute of Pathology, University Hospital Heidelberg, Germany
au.tomczak@yahoo.com
ISO_639-1
nb
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
ee9f2fe2-e652-4324-a289-07eb3b720b89
openEHR-EHR-CLUSTER.inversion_variant.v1
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archetype_id/value matches {/openEHR-EHR-CLUSTER\.reference_sequence(-[a-zA-Z0-9_]+)*\.v1/}
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openEHR-EHR-CLUSTER\.reference_sequence(-[a-zA-Z0-9_]+)*\.v1
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2
Genomic inversion variant
A human genetic sequence change where more than one nucleotide replaces the original sequence with the reverse complement of the original sequence, compared to a genomic reference sequence.
Start position
Position of the first nucleotide of the inverted range, in relation to the reference sequence.
End position
Position of the last nucleotide of the inverted range, in relation to the reference sequence.
Inverted sequence
The inverted sequence.
Reference sequence
The sequence file used as a reference to describe this variant.
Genetisk variant - Inversjon
En endring i gensekvensen hvor mer enn ett nukleotid (et DNA eller RNA-segment) er tatt ut og satt inn igjen i motsatt orientering (reversering av rekkefølgen i et kromosomsegment), sammenliknet med referansesekvensen.
Startposisjonen
Posisjonen til det første nukleotidet i inversjonen i forhold til referansesekvensen.
Sluttposisjonen
Posisjonen til det siste nukleotidet i inversjonen i forhold til referansesekvensen.
Inverterte sekvensen
Den omvendte/inverterte nukleotidsekvensen på referansesekvensen.
Referansesekvens
Sekvensfilen som har blitt brukt som en referanse for å beskrive varianten.
Genetic inversion variant
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.
Start position
*Position of the first nucleotide of the inverted range, in relation to the reference sequence. (en)
End position
*Position of the last nucleotide of the inverted range, in relation to the reference sequence. (en)
Inverted sequence
*The nucleotide sequence of the reference sequence at the given positions. (en)
Reference sequence
The sequence file that has been used as a reference to describe the variant.