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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 | Status: OBSERVED |
| NOT_OBSERVED |
| UNKNOWN |
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consequenceTypes List<SequenceOntologyTerm> | List of Sequence Ontology terms that describe the consequence types. accession String | Accession identifier. e.g.: SO:0001583 | name String | Term name, e.g.: missense_variant |
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genomicFeature GenomicFeature | Genomic feature. id String | Genomic feature ID. | type String | Type. | transcriptId String | Transcript ID. | geneName String | Gene name. | xrefs List<Xref> | List of synonymous. id String | ID. | dbName String | DB name. | dbDisplayName String | DB display name. | description String | Description. |
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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 |
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penetrance Penetrance | Penetrance. |
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 |
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actionable Boolean | Actionable variant. |
justification String | Justification. |