Annotation Detail
Information
- Associated Genes
- CYP2B6
- Associated Variants
-
CYP2B6 MUTATION
CYP2B6 MUTATION
CYP2B6 p.Gln172= (p.Q172=) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172= (p.Q172=) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 ) - Associated Disease
- Nonorganic psychosis
- Source Database
- DisGeNET
- Description
- We report (to our knowledge, for the first time in a child) the emergence of psychosis in a 12-year old white girl with an increased efavirenz concentration and heterozygous gene polymorphism of the CYP2B6-G516T.
- Pubmed
- 17968817
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2007
Drugs