intronic splice region variant

[iamdna]

What is this request referring to? intronic splice region variant

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

What is the definition that you would like for this term? A sequence variant in which a change has occurred within the intronic region of the splice site, 3-8 bases from boundary.

Synonyms none

Parent Term http://purl.obolibrary.org/obo/SO_0001630

Relevant Publications

[iamdna]

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

[egchristensen]

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?

[egchristensen]

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.