Germline SMARCB1 Gene Mutation

Preferred Label : Germline SMARCB1 Gene Mutation;

NCIt synonyms : Germline SNF5 Gene Mutation; Germline hSNFS Gene Mutation; Germline Ini1 Gene Mutation; Germline SMARCB1 Mutation; Germline SNF5L1 Gene Mutation; Germline SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily B, Member 1 Gene Mutation; SMARCB1 Germline Gene Mutation; Germline Snr1 Gene Mutation; SMARCB1 Germline Mutation; Germline BAF47 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SMARCB1 gene that originates in the gametes.;

NCI Metathesaurus CUI : CL1779196;

Details

Origin ID

C186701;

UMLS CUI

C5670705;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- SMARCB1 Schwannomatosis 1 [NCIt concept]
molecular_abnormality_involves_gene
- SMARCB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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