Promoter Mutation

Preferred Label : Promoter Mutation;

NCIt synonyms : Promoter Sequence Variant; Promoter Variant; Promoter Region Variant; Promoter Region Mutation; Promoter Sequence Mutation;

NCIt definition : A change in the nucleotide sequence for the regulatory region of a gene that is the binding site for proteins that initiate gene transcription, such as transcription factors and RNA polymerase.;

NCI Metathesaurus CUI : CL1798740;

Details

Origin ID

C190205;

UMLS CUI

C5783564;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
abnormality_associated_with_allele
- TPMT*V2 Allele [NCIt concept]
- TPMT*V3 Allele [NCIt concept]
- TPMT*V4 Allele [NCIt concept]
- TPMT*V5 Allele [NCIt concept]
- UGT1A1*28 Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients