Scope and Usage
This value set can be used in conjunction with the ancillary-amino-acid-change-type, which can provide optional detail associated to the PrimaryAminoAcidChangeType.
PrimaryAminoAcidChangeType:
Annotations done using the primaryAminoAcidChangeType attribute are restricted to one of the following terms provided. Any term used outside this list would be considered invalid for this attribute.
| Code | Display Name |
|---|---|
| SO:0001819 | synonymous_variant |
| SO:0001587 | stop_gained |
| SO:0001578 | stop_lost |
| SO:0002012 | start_lost |
| SO:0001583 | missense_variant |
| SO:0001589 | frameshift_variant |
| SO:0001823 | conservative_inframe_insertion |
| SO:0001824 | disruptive_inframe_insertion |
| SO:0001825 | conservative_inframe_deletion |
| SO:0001826 | disruptive_inframe_deletion |
Example
PrimaryAminoAcidChangeType: (cardinality of 1)
| Type | Display Name | Code |
|---|---|---|
primaryAminoAcidChangeType |
stop_gained |
SO:0001587 |