Terminology Service for NFDI4Health
CYP2C19*4 Allele
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http://purl.obolibrary.org/obo/NCIT_C45608
Human CYP2C19*4 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, does not encode a cytochrome P450 2C19 protein. The CYP2C19*4 allele exhibits a clinically-relevant SNP (c.1A>G) in the initiation codon that prevents translation of a protein product. Individuals who are heterozygous for this allele display a poor metabolizer phenotype. [ ]
Term info
Label
CYP2C19*4 Allele
Synonyms
- CYP2C19*4
- CYP2C19*4 Allele
- CYP2C19, c.1A>G
- CYP2C19, m3
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*4 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: Caucasian
Display Name
CYP2C19*4 Allele
GenBank Accession Number
NM_000769
Gene Encodes Product
Cytochrome P450 2C19
Legacy Concept Name
CYP2C19_4_Allele
OMIM Number
124020
Preferred Name
CYP2C19*4 Allele
PubMedID Primary Reference
9435198
Semantic Type
Gene or Genome
UMLS CUI
C1707183
code
C45608
Term relations
Subclass of:
- CYP2C19 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_In_Chromosomal_Location some 10q24.1-q24.3
- Allele_Has_Abnormality some Translation Initiation Abnormality
- Allele_Has_Abnormality some Adenosine to Guanosine Transition Abnormality
- Allele_Has_Abnormality some Transition Mutation
- Allele_Has_Activity some Absence of Biochemical Activity