rs1135840
This is a synonymous variant in the CYP2D6 gene.
Key Literature Trait Associations
CYP2D6 Metabolizer Status
CYP2D6 4180G>C (rs1135840) is a synonymous variant used for CYP2D6 haplotype phasing and star allele assignment. Although it does not alter protein sequence, accurate genotyping of this position is important for distinguishing between CYP2D6 haplotypes that share other defining variants. Combined with functional SNPs, it enables correct 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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