Annotation Detail
Information
- Associated Genes
- CYP2C19
- Associated Variants
-
CYP2C19 p.Trp212Ter (p.W212*)
(
ENST00000371321.9 )
CYP2C19 p.Trp212Ter (p.W212*) ( ENST00000371321.9 ) - Associated Disease
- Proguanil, poor metabolism of
- Source Database
- ClinVar
- Description
- NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) AND Proguanil, poor metabolism of
- ClinVar Allele ID
- 31938
- ClinVar RefSeq Alternation Syntax
- NM_000769.4:c.636G>A
- Clinical Significance Description
- drug response
- Clinical Significance Last Update
- 2009-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018398
- ClinVar Disease
- Proguanil, poor metabolism of
- Observed Origin Sample
- germline
- Pubmed
- 9093256
- Pubmed
- 19444287
- Pubmed
- 7969038
Drugs