Jump to:
loading...| Preferred Name | Gene Variant | |
| Synonyms |
Gene Mutation GENETIC_SEQ Gene Variant Gene Mutant alternative Gene Variation |
|
| Definitions |
A variation in the nucleic acid sequence of a specific gene. |
|
| 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#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178125 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173072 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173233 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178117 |
|
| Contributing_Source |
CTDC GDC PCDC |
|
| DEFINITION |
A variation in the nucleic acid sequence of a specific gene. |
|
| FULL_SYN |
Gene Mutation GENETIC_SEQ Gene Variant Gene Mutant alternative Gene Variation |
|
| Has_PCDC_Data_Type | ||
| Is_Value_For_GDC_Property | ||
| label |
Gene Variant |
|
| Maps_To |
Simple Nucleotide Variation |
|
| Preferred_Name |
Gene Variant |
|
| prefixIRI |
Thesaurus:C97927 |
|
| Semantic_Type |
Cell or Molecular Dysfunction |
|
| UMLS_CUI |
C0678941 |
|
| subClassOf |
Create mapping