functionally_abnormal NMD_escaping_variant sequence SO:0002320 david 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. 2020-12-30T17:12:30Z NMD escaping variant Added as per request from Ang Roberts as part of GenCC November 2020. nonsense-mediated decay escaping variant