Annotation Detail
Information
- Associated Genes
- CYP2C19
- Associated Variants
-
CYP2C19 c.332-23A>G
(
ENST00000480405.2,
ENST00000371321.9 )
CYP2C19 p.Pro227= (p.P227=) ( ENST00000371321.9 )
CYP2C19 c.332-23A>G ( ENST00000371321.9, ENST00000480405.2 )
CYP2C19 p.Pro227= (p.P227=) ( ENST00000371321.9 ) - Source Database
- ClinVar
- Description
- CYP2C19*2 AND CYP2C19: no function
- ClinVar Allele ID
- 622287
- ClinVar Allele ID
- 31936
- ClinVar RefSeq Alternation Syntax
- NM_000769.4:c.332-23A>G
- ClinVar RefSeq Alternation Syntax
- NM_000769.4:c.681G>A
- Clinical Significance Description
- drug response
- Clinical Significance Review Status
- practice guideline
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000783648
- Observed Origin Sample
- germline
Drugs