diff --git a/biolink-model.yaml b/biolink-model.yaml index 3296c7012..dd25e6aa0 100644 --- a/biolink-model.yaml +++ b/biolink-model.yaml @@ -9099,6 +9099,21 @@ classes: # slightly broader semantics than SO:0001059 - 'sequence alteration' # describes a sequence feature that may have 1..* sequence alterations - WIKIDATA:Q15304597 + narrow_mappings: + - SO:0001632 # (downstream_gene_variant) + - SO:0001631 # (upstream_gene_variant) + - SO:0001627 # (intron_variant) + - SO:0001619 # (non_coding_transcript_variant) + - SO:0001970 # (non_coding_transcript_intron_variant) + - SO:0001792 # non_coding_transcript_exon_variant + - SO:0001825 # conservative_inframe_deletion + - SO:0001823 # conservative_inframe_insertion + - SO:0001826 # disruptive_inframe_deletion + - SO:0001824 # disruptive_inframe_insertion + - SO:0001624 # 3_prime_UTR_variant + - SO:0001623 # 5_prime_UTR_variant + - SO:0001632 # downstream_gene_variant + - SO:0001619 # non_coding_transcript_variant close_mappings: - dcid:Allele - SO:0001060 @@ -9143,6 +9158,17 @@ classes: description: ti282a allele from ZFIN - value: CLINVAR:17681 description: NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) + type: + description: >- + The type field of a Sequence Variant is used to indicate the nature of the variation. The value of this + field should be a Sequence Ontology compact URI (or CURIE). + examples: + - value: SO:0001632 # downstream gene variant + - value: SO:0001059 # sequence alteration + - value: SO:0002007 # multiple nucleotide variant (substitution) + - value: SO:0001825 # conservative inframe deletion + + in_subset: - model_organism_database