| ARCHETYPE ID | openEHR-EHR-CLUSTER.repeated_sequence_variant_local.v0 |
|---|---|
| Concept | Repeated sequence variant |
| Description | A sequence where, compared to a reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other. |
| Purpose | To describe a repeated sequence variant observed in a sequence according to the HGVS nomenclature |
| References | "Den Dunnen et al. (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum.Mutat. 25: 37: 564-569 " |
| Copyright | © HiGHmed |
| Authors | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-24 |
| Other Details Language | Author name: Cecilia Mascia Organisation: CRS4, Italy Email: cecilia.mascia@crs4.it Date originally authored: 2017-02-24 |
| Other Details (Language Independent) |
|
| Keywords | repeated sequence, variation, genetic, genomic, variant |
| Lifecycle | rejected |
| UID | 230be5b6-50c7-421b-8ed5-d7c990524f4e |
| Language used | en |
| Citeable Identifier | 867.109.36 |
| Revision Number | 0.0.1 |
| items | |
| Start position | Start position: Position of the first nucleotide of the repeated range |
| End position | End position: Position of the last nucleotide of the repeated range |
| Repeated sequence | Repeated sequence: The sequence of nucleotides that has been repeated |
| Copy number | Copy number: Number of repeat units |
| Other contributors | Paolo Uva, CRS4, Italy Gianluigi Zanetti, CRS4, Italy Simone Leo, CRS4, Italy |
| Translators |