Biallelic SMARCA4 Gene Mutation

Preferred Label : Biallelic SMARCA4 Gene Mutation;

NCIt synonyms : Biallelic hSNF2b Gene Mutation; Biallelic BRG1 Gene Mutation; Biallelic SMARCA4 Mutation; SMARCA4 Biallelic Mutation; Biallelic SNF2-Beta Gene Mutation; Biallelic SWI2 Gene Mutation; Biallelic SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily A, Member 4 Gene Mutation; Biallelic SNF2L4 Gene Mutation; Biallelic BRG-1 Gene Mutation; Biallelic BAF190A Gene Mutation; Biallelic SNF2LB Gene Mutation; Biallelic BAF190 Gene Mutation; SMARCA4 Biallelic Gene Mutation; Biallelic SNF2 Gene Mutation; Biallelic BRM/SWI2-Related Gene 1 Mutation;

NCIt definition : The presence of mutations in both alleles of the SMARCA4 gene.;

NCI Metathesaurus CUI : CL1778626;

Details

Origin ID

C186280;

UMLS CUI

C5670416;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- SMARCA4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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