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 | variant |
<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> |
< variant xmlns = "http://schemas.nmdp.org/spec/hml/1.0" reference-bases = "T" alternate-bases = "C" start = "29942937" end = "29943001" > |
</ variant> |