Germline ETV6 Gene Mutation

Preferred Label : Germline ETV6 Gene Mutation;

NCIt synonyms : Germline TEL Gene Mutation; Germline ETS Variant 6 Gene Mutation; Germline TEL Oncogene Mutation; Germline ETS Variant Gene 6 Mutation;

NCIt definition : A change in the nucleotide sequence of the ETV6 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1907436;

Details

Origin ID

C200427;

UMLS CUI

C5856232;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Hematologic Neoplasm with Germline ETV6 Mutation [NCIt concept]
molecular_abnormality_involves_gene
- ETV6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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