| 3 prime UTR variant |
A UTR variant of the 3' UTR. |
| 5 prime UTR variant |
A UTR variant of the 5' UTR. |
| coding sequence variant |
A sequence variant that changes the coding sequence. |
| frameshift variant |
A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three. |
| inframe deletion |
An inframe non synonymous variant that deletes bases from the coding sequence. |
| inframe insertion |
An inframe non synonymous variant that inserts bases into in the coding sequence. |
| initiator codon variant |
A codon variant that changes at least one base of the first codon of a transcript. |
| intron variant |
A transcript variant occurring within an intron. |
| missense variant |
A sequence variant that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved. |
| nearest gene counting from 5' end |
Nearest gene to variant counting from 5' end. |
| non coding transcript exon variant |
A sequence variant that changes non-coding exon sequence in a non-coding transcript. |
| regulatory region variant |
A sequence variant located within a regulatory region. |
| splice acceptor variant |
A splice variant that changes the 2 base region at the 3' end of an intron. |
| splice donor variant |
A splice variant that changes the 2 base pair region at the 5' end of an intron. |
| splice region variant |
A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. |
| stop gained |
A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened transcript. |
| stop lost |
A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript. |
| stop retained variant |
A sequence variant where at least one base in the terminator codon is changed, but the terminator remains. |
| synonymous variant |
A sequence variant where there is no resulting change to the encoded amino acid. |
| upstream gene variant |
A sequence variant located 5' of a gene. |