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
Hematologic Neoplasms
Source Database
DisGeNET
Description
This study demonstrates for the first time that the presence of the CYP2B6 G516T mutation increases the rate of 4-OH-CPA formation in patients with hematological malignancies.
Pubmed
16183265
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2006
Drugs