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id

String

Clinical variant evidence ID.

phenotypes

List<Phenotype>

List of phenotypes for that evicende.

ageOfOnset

String

Age at which the proband acquired a condition or symptoms of a that disorder.

status

Status


OBSERVED
NOT_OBSERVED
UNKNOWN

consequenceTypes

List<SequenceOntologyTerm>

List of Sequence Ontology terms that describe the consequence types.

author

String

Author.

type

String

Type.

message

String

Message.

date

String

Date.

genomicFeature

GenomicFeature

Genomic feature.





TO_BE_REPORTED

modeOfInheritance

ModeOfInheritance

Mode of inheritance.

MONOALLELIC
MONOALLELIC_NOT_IMPRINTED
MONOALLELIC_MATERNALLY_IMPRINTED
MONOALLELIC_PATERNALLY_IMPRINTED
BIALLELIC
MONOALLELIC_AND_BIALLELIC
MONOALLELIC_AND_MORE_SEVERE_BIALLELIC
XLINKED_BIALLELIC
YLINKED_MONOALLELIC
YLINKED
MITOCHONDRIAL
DE_NOVO
COMPOUND_HETEROZYGOUS
UNKNOWN

penetrance

Penetrance

Penetrance.

COMPLETE
INCOMPLETE

panelId

String

Panel ID.

classification

VariantClassification

Variant classification to messure the level of significance.









score

Double

Score.

fullyExplainPhenotypes

Boolean

Fully expain phenotypes.

compoundHeterozygousVariantIds

List<String>

List of compound heterozygous variant IDs.

roleInCancer

RoleInCancer

Role in Cancer.

ONCOGENE
TUMOR_SUPPRESSOR_GENE
BOTH

actionable

Boolean

Actionable variant.

justification

String

Justification.
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