Rs56337013

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is asnp
is mentioned by
dbSNPrs56337013
hapmaprs56337013
hgdprs56337013
ensemblrs56337013
gopubmedrs56337013
scholarrs56337013
googlers56337013
pharmgkbrs56337013
hgvbaseg2prs56337013
medrefsnprs56337013
23andMers56337013
SNP Nexus

Chromosome10
Orientationplus
Position96602484
GenotypeEffect
rs56337013(C;C)normal
rs56337013(C;T)carrier of one CYP2C19*5 allele
rs56337013(T;T)CYP2C19*5 homozygote


Genotypes Magnitude Summary
Rs56337013(C;C) 00 normal
Rs56337013(C;T) carrier of one CYP2C19*5 allele
Rs56337013(T;T) CYP2C19*5 homozygote

The rs56337013(T) allele defines the CYP2C19 variant known as CYP2C19*5.

This variant is quite rare (< 1% of Caucasians or Chinese), and leads to a poor metabolizer phenotype. [PMID 10022751]

PharmGKBPA162356002
NameCYP2C19:1297C>T, R433W
AnnotationThis variant is the defining SNP for CYP2C19*5 and contributes to the S-mephenytoin poor metabolizer phenotype in caucasians and chinese. The Arg433 to Trp mutation in the heme-binding region essentially abolishes CYP2C19 activity toward S-mephenytoin and tolbutamide.
GeneCYP2C19
FeatueExon
EvidencePubMed ID:10022751
Drugsmephenytoin, tolbutamide
Diseases
Curation LevelCurated