Variant

Variant

activeGenomics Reporting3.0.0resource17 key elements

Details about a set of changes in the tested sample compared to a reference sequence.

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant
ID
variant
Type
Base Definition
finding
Derivation
constraint
Mandatory and Must-Support Elements

Elements with cardinality > 0 or marked as Must Support (S)

PathCard.TypeFlagsDescription
component.value[x]
CodeableConcept
1+
A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
component.value[x]
CodeableConcept
1+
A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
component.value[x]
CodeableConcept
1+
component.value[x]
CodeableConcept
1+
Versioned genomic reference sequence identifier
component.value[x]
CodeableConcept
1+
Versioned protein reference sequence identifier
component.value[x]
CodeableConcept
1+
Versioned transcript reference sequence identifier
component.value[x]
CodeableConcept
1+
0-based interval counting | 0-based character counting | 1-based character counting
component.value[x]
CodeableConcept
1+
deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
component.value[x]
CodeableConcept
1+
Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
component.value[x]
CodeableConcept
1+
Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
component.value[x]
CodeableConcept
1+
Maternal | Paternal | Unknown
component.value[x]
CodeableConcept
1+
Directly measured | Family DNA | Family history | Inferred from population data
component.value[x]
CodeableConcept
1+
ClinVar ID or similar
component.value[x]
CodeableConcept
1+
A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
component.value[x]
CodeableConcept
1+
High | Intermediate | Low
component.value[x]
string
1+
CAG
component.value[x]
Quantity
1+
40