uAUG_lost - AUG lost variant

[CristianRiccio]

What is this request referring to? A variant which results in the loss of an AUG codon in an ORF in a 5'UTR.

What is the name you would like SO to give the term? 5_prime_UTR_uORF_AUG_codon_loss_variant

What is the definition that you would like for this term? A 5'UTR variant where an AUG codon is lost in an upstream open reading frame.

Synonyms uAUG_lost(UTRannotator)

Parent Term 5_prime_UTR_uORF_AUG_codon_variant

Relevant Publications PMID: 32461616, Whiffin et al 2020 Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. (Nature Communications)

PMID: 32926138, Zhang et al 2021 Annotating high-impact 5'untranslated region variants with the UTRannotator (Bioinformatics)