Transversion Mutation

Preferred Label : Transversion Mutation;

NCIt synonyms : Nucleotide Transversion Abnormality; Transversion; Mutation, Transversion;

NCIt definition : A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine.;

Details

Origin ID

C18135;

UMLS CUI

C0599157;

Automatic exact mappings (from CISMeF team)
- Transverse [FMA entity]
- Transverse (qualifier value) [SNOMED CT concept]
- transverse [SNOMED Notion]
- transverse [Radlex concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
abnormality_associated_with_allele
- CYP1A2*1 Allele [NCIt concept]
- CYP1A2*11 Allele [NCIt concept]
- CYP2C19*12 Allele [NCIt concept]
- CYP2C19*7 Allele [NCIt concept]
- CYP2C8*2 Allele [NCIt concept]
- CYP2C8*4 Allele [NCIt concept]
- CYP2C8*8 Allele [NCIt concept]
- CYP2C9*18 Allele [NCIt concept]
- CYP2C9*3 Allele [NCIt concept]
- CYP2C9*5 Allele [NCIt concept]
- CYP2D6*1 Allele [NCIt concept]
- CYP2D6*11 Allele [NCIt concept]
- CYP2D6*2 Allele [NCIt concept]
- CYP2D6*41 Allele [NCIt concept]
- CYP2D6*44 Allele [NCIt concept]
- CYP2D6*7 Allele [NCIt concept]
- CYP2D6*8 Allele [NCIt concept]
- CYP3A7*2 Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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