rs16947
This is a missense variant in the CYP2D6 gene.
Key Literature Trait Associations
CYP2D6 Metabolizer Status
CYP2D6*2 is defined by the R296C substitution (rs16947) and is classified as a normal-function allele. It is the most common non-reference CYP2D6 haplotype and serves as the backbone for several other alleles. While *2 itself does not cause altered drug metabolism, accurate genotyping of this variant is essential for correct CYP2D6 star allele assignment and metabolizer phenotype prediction.
▶ClinVar annotation
not specified; Tramadol response; not provided
View on ClinVar →▶Research that mentions this SNP (2)
▶Influence of neurexin 1 (NRXN1) polymorphisms in clozapine responseReviewRenan P. Souza et al.(2010)· Human Psychopharmacology: Clinical and Experimental
This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.
▶Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjectsReviewRenan P. Souza et al.(2009)· Human Psychopharmacology: Clinical and Experimental
A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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