Germline APC Promoter 1B Variant

Preferred Label : Germline APC Promoter 1B Variant;

NCIt synonyms : Germline APC Gene Promoter 1B Variant; APC Promoter 1B Germline Variant;

NCIt definition : A mutation or chromosomal abnormality occurring in the gametes that involves the distal promoter element in the 5' regulatory region of the APC gene.;

NCI Metathesaurus CUI : CL1406525;

Details

Origin ID

C172365;

UMLS CUI

C5419612;

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]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 5 [NCIt concept]
is_molecular_abnormality_of_disease
- Gastric Adenocarcinoma and Proximal Polyposis of the Stomach [NCIt concept]
molecular_abnormality_involves_gene
- APC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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