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loading...| Preferred Name |
Gene Variant |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97927 |
| code |
C97927 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178117 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173072 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173233 |
| Contributing_Source |
GDC PCDC CTDC |
| DEFINITION |
A variation in the nucleic acid sequence of a specific gene. |
| FULL_SYN |
alternative Gene Variation Gene Mutation Gene Mutant GENETIC_SEQ Gene Variant |
| Has_PCDC_Data_Type | |
| Is_Value_For_GDC_Property | |
| label |
Gene Variant |
| Maps_To |
Simple Nucleotide Variation |
| Preferred_Name |
Gene Variant |
| prefixIRI |
Thesaurus:C97927 |
| prefLabel |
Gene Variant |
| Semantic_Type |
Cell or Molecular Dysfunction |
| UMLS_CUI |
C0678941 |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/SO_0001564 | Sequence Types and Features Ontology / 序列类型和特征本体 | LOOM | |
| http://purl.obolibrary.org/obo/SO_0001564 | Human Disease Ontology / 人类疾病本体 | LOOM |