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iamdna avatar iamdna commented on August 27, 2024

I need couple of more concepts.

  1. splice region synonymous variant
    A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron where there is no resulting change to the encoded amino acid
  2. splice region non coding exon variant
    A transcript variant occurring in the splice region within1-3 bases of the exon of a non coding transcript

from so-ontologies.

egchristensen avatar egchristensen commented on August 27, 2024

Hi @iamdna I am looking at terms around this area of the ontology. I wonder if instead of creating a new term, we might be better off editing the existing term "extended_intronic_splice_region_variant" (SO:0001995) and moving it under "splice_region_variant". What do you think?

from so-ontologies.

egchristensen avatar egchristensen commented on August 27, 2024

And @iamdna I'm sorry for the trouble, but would you please create separate new term requests for the other two concepts you'd like us to look at? Thank you.

from so-ontologies.

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