Summary
- IRI
- SEPIO:0000380
- Name
- Molecular Consequence Value Set
- Description
- A classification of a genomic variant based on its effect on a transcript or its location with respect to the transcript.
Included Codes
This value set includes codes from the following identifier systems:
- Include any concept from
http://purl.obolibrary.org/obo/so#( Sequence Ontology )
Expansion
This value set is extensible and therefore can be extended to include concepts from the listed identifier systems by adding on the fly concepts defined by a sending system if no viable option from any of the identifier systems is acceptable.
This value set contains 27 concepts.
| IRI | Label | Description |
|---|---|---|
| SO:0000159 | deletion | |
| SO:0000191 | interior intron | |
| SO:0000199 | translocation | |
| SO:0000203 | three prime UTR | |
| SO:0000204 | five prime UTR | |
| SO:0000507 | pseudogenic exon | |
| SO:0000667 | insertion | |
| SO:0001019 | copy number variation | |
| SO:0001568 | splicing variant | |
| SO:0001578 | stop lost | |
| SO:0001583 | missense variant | |
| SO:0001586 | non conservative missense variant | |
| SO:0001587 | stop gained | |
| SO:0001589 | frameshift variant | |
| SO:0001629 | splice-site variant | |
| SO:0001819 | synonymous variant | |
| SO:0001823 | conservative Inframe Insertion | |
| SO:0001824 | disruptive inframe insertion | |
| SO:0001825 | conservative Inframe Deletion | |
| SO:0001826 | disruptive inframe deletion | |
| SO:0001909 | frameshift elongation | |
| SO:0002007 | MNV | |
| SO:0002012 | start lost | |
| SO:0002073 | no sequence alteration | |
| SO:1000002 | substitution | |
| SO:10000032 | indel | |
| SO:1000036 | inversion |