Terminology Service for NFDI4Health

CYP2C19*5 Allele

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Human CYP2C19*5 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*5 protein. The CYP2C19*5 allele exhibits a clinically-relevant SNP (c.1297C>T) in exon 9 that results in a R433W coding change in the heme-binding region of the protein. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2C19*5 protein. [ ]

Term info

Label

CYP2C19*5 Allele

Synonyms
  • CYP2C19*5
  • CYP2C19*5 Allele
  • CYP2C19, R433W
  • CYP2C19, c.1297C>T
  • CYP2C19, m4
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*5 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian; Caucasian

Display Name

CYP2C19*5 Allele

Gene Encodes Product

Cytochrome P450 2C19

Legacy Concept Name

CYP2C19_5_Allele

OMIM Number

124020

Preferred Name

CYP2C19*5 Allele

PubMedID Primary Reference

10022751, 9103550

Semantic Type

Gene or Genome

UMLS CUI

C1707184

code

C45609