The-Sequence-Ontology / SO-Ontologies

Collect of SO Ontologies
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protein_coding_variant #631

Open CristianRiccio opened 1 year ago

CristianRiccio commented 1 year ago

What is this request referring to? protein-coding variant

What is the name you would like SO to give the term? protein_coding_variant

What is the definition that you would like for this term? A variant occurring within a protein-coding region of the genome.

Synonyms

Parent Term

Relevant Publications PMID: 28482034 Capriotti, E., & Fariselli, P. (2017). PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants. Nucleic acids research, 45(W1), W247–W252. https://doi.org/10.1093/nar/gkx369

egchristensen commented 3 months ago

Perhaps we could add this as a synonym of coding_sequence_variant (SO:0001580) instead?

Also, please see my comment in issue #630.