Annotation Detail
Information
- Associated Genes
- CYP2B6
- Associated Variants
-
CYP2B6 p.Ile328Thr (p.I328T)
(
ENST00000324071.10,
ENST00000593831.1 )
CYP2B6 p.Ile328Thr (p.I328T) ( ENST00000324071.10, ENST00000593831.1 ) - Associated Disease
- CYP2B6-related disorder
- Source Database
- ClinVar
- Description
- NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr) AND CYP2B6-related disorder
- ClinVar Allele ID
- 227805
- ClinVar RefSeq Alternation Syntax
- NM_000767.5:c.983T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003927895
- ClinVar Disease
- CYP2B6-related disorder
- Observed Origin Sample
- germline
Drugs