Annotation Detail
Information
- Associated Genes
- CYP2B6
- Associated Variants
-
CYP2B6 p.Gln172His (p.Q172H)
(
ENST00000324071.10,
ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 ) - Associated Disease
- CYP2B6-related disorder
- Source Database
- ClinVar
- Description
- NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND CYP2B6-related disorder
- ClinVar Allele ID
- 38626
- ClinVar RefSeq Alternation Syntax
- NM_000767.5:c.516G>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974851
- ClinVar Disease
- CYP2B6-related disorder
- Observed Origin Sample
- germline
Drugs