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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
dominant negative variant 
gain of function variant 
lethal variant 
loss of function variant 
loss of heterozygosity 
NMD escaping variant +  
A sequence variant that leads to a change in the location of a termination codon in a transcript but allows the transcript to escape 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.
NMD triggering variant +  
null mutation +  
transcript function variant +  
translational product function variant +  

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

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