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- SO_0002319 IAO_0000115 "A sequence variant that leads to a change in the location of a termination codon in a transcript that leads to nonsense-mediated decay (NMD). The change in location of a termination codon can be caused by several different types of sequence variants, including stop_gained (SO:0001587), frameshift_variant (SO:0001589), splice_donor_variant (SO:0001575), and splice_acceptor_variant (SO:0001574) types of variants." @default.
- SO_0002319 normalizedInformationContent "89.350088392419622" @default.
- SO_0002319 referenceCount "5" @default.
- SO_0002319 created_by "david" @default.
- SO_0002319 creation_date "2020-12-30T17:12:30Z" @default.
- SO_0002319 hasExactSynonym "NMD triggering variant" @default.
- SO_0002319 hasExactSynonym "nonsense-mediated decay triggering variant" @default.
- SO_0002319 hasOBONamespace "sequence" @default.
- SO_0002319 id "SO:0002319" @default.
- SO_0002319 type Class @default.
- SO_0002319 comment "Added as per request from Ang Roberts as part of GenCC November 2020." @default.
- SO_0002319 isDefinedBy so.owl @default.
- SO_0002319 label "NMD_triggering_variant" @default.
- SO_0002319 subClassOf BFO_0000001 @default.
- SO_0002319 subClassOf BFO_0000002 @default.
- SO_0002319 subClassOf BFO_0000004 @default.
- SO_0002319 subClassOf BFO_0000040 @default.
- SO_0002319 subClassOf COB_0000006 @default.
- SO_0002319 subClassOf SO_0001060 @default.
- SO_0002319 subClassOf SO_0001536 @default.
- SO_0002319 subClassOf SO_0002218 @default.
- SO_0002319 subClassOf SO_0002319 @default.
- SO_0002319 category Entity @default.
- SO_0002319 category NamedThing @default.