Molecular Consequence
ValueSet
Veränderungen der strukturellen Merkmale einer Sequenz aufgrund der beobachteten Variante.
Canonical: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Das ValueSet Molecular Consequence stammt aus HL7 Genomics Reporting Implementation Guide.
ValueSet 'MolecularConsequenceVS'
Version | 2.0.0 |
Published by | HL7 Clinical Genomics Working Group |
Status | Active (since 2022-05-09T16:53:07+00:00) |
The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence.
Contact Information
HL7 Clinical Genomics Working Group
Website: http://www.hl7.org/Special/com...
Email: cg@lists.HL7.org
- Include codes from http://sequenceontology.org where concept IsA SO:0001537