Transition Mutation

Preferred Label : Transition Mutation;

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

NCIt definition : A relatively common point mutation in which a purine is exchanged for a nonidentical purine or a pyrimidine is exchanged for a nonidentical pyrimidine. Base mispairing and mutagenic chemicals including nitrous acid and 5-bromo-2-deoxyuridine can result in transitions.;

Details

Origin ID

C18134;

UMLS CUI

C0599156;

Automatic exact mappings (from CISMeF team)
- In transit (attribute) [SNOMED CT concept]
- Transital [MeSH concept]
- Transitional [FMA entity]
- Transitions [DeCS]
- in transit [Radlex concept]
- transit [LOINC part]
- transition state [IUPAC Term]
Currated CISMeF NLP mapping
- transition [IUPAC Term]
- λ-transition [IUPAC Term]
False automatic mappings
- amobarbital [MeSH Descriptor]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- transition [IUPAC Term]
abnormality_associated_with_allele
- CYP1A2*1 Allele [NCIt concept]
- CYP1A2*7 Allele [NCIt concept]
- CYP2C19*1 Allele [NCIt concept]
- CYP2C19*10 Allele [NCIt concept]
- CYP2C19*2 Allele [NCIt concept]
- CYP2C19*3 Allele [NCIt concept]
- CYP2C19*4 Allele [NCIt concept]
- CYP2C19*5 Allele [NCIt concept]
- CYP2C19*6 Allele [NCIt concept]
- CYP2C19*8 Allele [NCIt concept]
- CYP2C19*9 Allele [NCIt concept]
- CYP2C8*3 Allele [NCIt concept]
- CYP2C8*6 Allele [NCIt concept]
- CYP2C8*7 Allele [NCIt concept]
- CYP2C9*1 Allele [NCIt concept]
- CYP2C9*11 Allele [NCIt concept]
- CYP2C9*12 Allele [NCIt concept]
- CYP2C9*16 Allele [NCIt concept]
- CYP2C9*2 Allele [NCIt concept]
- CYP2C9*8 Allele [NCIt concept]
- CYP2D6*1 Allele [NCIt concept]
- CYP2D6*10 Allele [NCIt concept]
- CYP2D6*12 Allele [NCIt concept]
- CYP2D6*14 Allele [NCIt concept]
- CYP2D6*2 Allele [NCIt concept]
- CYP2D6*36 Allele [NCIt concept]
- CYP2D6*4 Allele [NCIt concept]
- CYP2D6*41 Allele [NCIt concept]
- CYP2E1*2 Allele [NCIt concept]
- CYP3A4*17 Allele [NCIt concept]
- CYP3A4*18 Allele [NCIt concept]
- CYP3A5*10 Allele [NCIt concept]
- CYP3A5*3 Allele [NCIt concept]
- CYP3A5*6 Allele [NCIt concept]
- CYP3A5*8 Allele [NCIt concept]
- CYP3A5*9 Allele [NCIt concept]
- EGF A61G Allele [NCIt concept]
- NQO1*2 Allele [NCIt concept]
- TPMT*3A Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients