NMD_triggering_variant - Ontology Browser

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NMD_triggering_variant (SO:0002319)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)

Parent Terms

Term With Siblings

Child Terms

functionally abnormal + is-a

dominant negative variant

gain of function variant

lethal variant

loss of function variant

loss of heterozygosity

NMD escaping variant +

NMD triggering variant +

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.

null mutation +

transcript function variant +

translational product function variant +

frameshift variant NMD triggering

splice acceptor variant NMD triggering

splice donor variant NMD triggering

stop gained NMD triggering

Synonyms
Exact Synonyms:	NMD triggering variant ; nonsense-mediated decay triggering variant
Definition Sources:	GenCC:AR

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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