CYP2C19*7 Allele

Preferred Label : CYP2C19*7 Allele;

NCIt synonyms : Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*7 Allele; CYP2C19*7; CYP2C19, c.IVS5 2T A; CYP2C19 7 Allele;

NCIt definition : Human CYP2C19*7 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*7 protein. The CYP2C19*7 allele exhibits a clinically-relevant SNP (c.IVS5 2T A) in the invariant GT at the 5' donor splice site of intron 5 that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2C19*7 protein.;

NCIt note : Ethnicity Association: Caucasian;

GenBank Accession Number : NM_000769;

PubMed : 10411572;

Details

Origin ID

C46009;

UMLS CUI

C1707186;

OMIM relation
- Cytochrome p450, subfamily iic, polypeptide 19 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Splice-Site Mutation [NCIt concept]
- Thymidine to Adenosine Transversion Abnormality [NCIt concept]
- Transversion Mutation [NCIt concept]
allele_has_activity
- Absence of Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 10q24.1-q24.3 [NCIt concept]
allele_plays_altered_role_in_process
- Drug Metabolism [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Drug Metabolism [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients