variant-effect

A child of "variant", defines the effect of this variation from the 
          published sequence.

          Sequence Ontology (SO) variant effect terms are specifications of the
          sequence_variant (http://sequenceontology.org/browser/current_svn/term/SO:0001060) term.

          HGVS (Human Genome Variation Society) information can be found here:
          http://www.hgvs.org/mutnomen/disc.html

          Additional attributes may be used to provide more information on the effect, for
          example severity, POLYPHEN prediction, SIFT score, etc.

        Attribute:
        ---------  
        - term:  (required) Sequence Ontology (SO) term describing the effect, e.g.
                            "synonymous_variant"  (http://sequenceontology.org/browser/current_svn/term/SO:0001819)
                            "missense_variant"  (http://sequenceontology.org/browser/current_svn/term/SO:0001583)
        - hgvs:  (optional) Human Genome Variation Society variant effect description, e.g. 
                            ENST00000288602.3:c.83T>A
                            ENSP00000288602.1:p.Val28Glu
        - uri:   (optional) External reference for this variant effect.

Element Information

Model

Attributes

QName Type Fixed Default Use Inheritable Annotation
hgvs restriction of xs:string optional
term restriction of xs:string required
uri xs:anyURI optional
Wildcard: ANY attribute from ANY namespace

Used By

Element variant

Source

<xs:element name="variant-effect">
  <xs:annotation>
    <xs:documentation>A child of "variant", defines the effect of this variation from the published sequence. Sequence Ontology (SO) variant effect terms are specifications of the sequence_variant (http://sequenceontology.org/browser/current_svn/term/SO:0001060) term. HGVS (Human Genome Variation Society) information can be found here: http://www.hgvs.org/mutnomen/disc.html Additional attributes may be used to provide more information on the effect, for example severity, POLYPHEN prediction, SIFT score, etc. Attribute: --------- - term: (required) Sequence Ontology (SO) term describing the effect, e.g. "synonymous_variant" (http://sequenceontology.org/browser/current_svn/term/SO:0001819) "missense_variant" (http://sequenceontology.org/browser/current_svn/term/SO:0001583) - hgvs: (optional) Human Genome Variation Society variant effect description, e.g. ENST00000288602.3:c.83T>A ENSP00000288602.1:p.Val28Glu - uri: (optional) External reference for this variant effect.</xs:documentation>
  </xs:annotation>
  <xs:complexType>
    <xs:attribute name="term" use="required">
      <xs:simpleType>
        <xs:restriction base="xs:string">
          <xs:minLength value="1"/>
        </xs:restriction>
      </xs:simpleType>
    </xs:attribute>
    <xs:attribute name="hgvs" use="optional">
      <xs:simpleType>
        <xs:restriction base="xs:string">
          <xs:minLength value="1"/>
        </xs:restriction>
      </xs:simpleType>
    </xs:attribute>
    <xs:attribute name="uri" type="xs:anyURI" use="optional"/>
    <xs:anyAttribute/>
  </xs:complexType>
</xs:element>

Sample