HgvsListItem¶
Trial Use
May change in future releases. See the GKM Maturity Model.
A complex structure for sharing individual HGVS entries associated with Clinvar Variations including nucleotide expressions, protein expressions, molecular consequence and mane select/plus settings for the specific aligned and projected forms of the clinvar variant.
JSON Schema: HgvsListItem
Information Model¶
| Field | Type | Limits | Description |
|---|---|---|---|
nucleotideExpression |
Expression | 0..1 | The nucleotide HGVS expression with syntax (e.g.,hgvs.c, hgvs.g) and value (the HGVS string). ClinVar's submitted text is never altered: when ClinVar supplies an expression with no HGVS type letter (e.g. NC_000017.10:9481617_9489649del), it is kept as an extension of the listed expression. If ClinVar also supplies a valid expression for the same accession, that one is listed with extensions invalidClinvarExpression (the submitted text) and expressionMerged (true). Otherwise the listed expression is a repair (the type letter restored) with extensions originalClinvarExpression (the submitted text) and expressionRepaired (true). |
nucleotideType |
string |
0..1 | The type of nucleotide expression as reported by ClinVar (e.g., coding, genomic, genomic, top-level). |
maneSelect |
boolean |
0..1 | true if this transcript is designated as MANE Select. Absent or false when not applicable. |
manePlus |
boolean |
0..1 | true if this transcript is designated as MANE Plus Clinical. Absent or false when not applicable. |
proteinExpression |
Expression | 0..1 | The protein HGVS expression with syntax (typically hgvs.p) and value. Present only when a protein-level expression exists for the nucleotide expression. |
molecularConsequence |
Coding[] (unordered) | 0..m | Sequence Ontology terms describing the predicted molecular consequence. Each entry includes code (SO identifier), system, name (SO term label), and iris (identifiers.org link). |