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 )
Source Database
ClinVar
Description
NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) AND Efavirenz response
ClinVar Allele ID
38626
ClinVar RefSeq Alternation Syntax
NM_000767.5:c.516G>T
Clinical Significance Description
drug response
Clinical Significance Last Update
2015-05-18
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000022520
Observed Origin Sample
germline
Pubmed
15622315
Pubmed
20639527
Pubmed
20860463
Drugs