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.Ile328Thr (p.I328T) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172= (p.Q172=) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Gln172His (p.Q172H) ( ENST00000324071.10, ENST00000593831.1 )
CYP2B6 p.Ile328Thr (p.I328T) ( ENST00000324071.10, ENST00000593831.1 ) - Associated Disease
- Stevens-Johnson syndrome
- Source Database
- DisGeNET
- Description
- CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/TEN susceptibility.
- Pubmed
- 23774940
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs