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. 2019 May 20;7(7):e00751. doi: 10.1002/mgg3.751

Table 2.

Patient 1 Drug Metabolism

Gene Genotype Phenotype summary References
CYP1A2
Cytochrome P450 Family 1 Subfamily A Member 2
*1A/*1F Rapid metabolites may cause toxicity or side effects RightMed Comprehensive test (OneOme)
CYP2B6
Cytochrome P450 Family 2 Subfamily B Member 6
*1/*6 Decreased activity, active drugs converted to inactive metabolites may cause side effects or toxicity RightMed Comprehensive test (OneOme)
CYP2C19
Cytochrome P450 Family 2 Subfamily C Member 19
*1/*2 Decreased activity, active drugs converted to inactive metabolites may cause side effects or toxicity RightMed Comprehensive test (OneOme)
CYP2C Cluster rs12777823 GA Altered warfarin clearance RightMed Comprehensive test (OneOme)
CYP2D6
Cytochrome P450 Family 2 Subfamily D Member 6
*1/*4 Decreased activity, active drugs converted to inactive metabolites may cause side effects or toxicity RightMed Comprehensive test (OneOme)
COMT
Catechol‐O‐Methyltransferase
rs4680 AA Low activity in the catabolism of neurotransmitters dopamine, epinephrine, and norepinephrine RightMed Comprehensive test (OneOme), NCBI Gene
(www.ncbi.nlm.nih.gov/gene)
F2
Coagulation factor II, thrombin
rs1799963 GA Increased risk of thrombosis associated with prothrombin thrombophilia RightMed Comprehensive test (OneOme)
NUDT15
Nudix Hydrolase 15
rs116855232 Increased risk of leukopenia with thiopurine administration RightMed Comprehensive test (OneOme)
SLC6A4
Solute Carrier Family 6
Member 4
S/S (Sa/Sa) Reduced expression of serotonin transporter localized in presynaptic neuronal membranes. RightMed Comprehensive test (OneOme), OMIM (www.omim.org/entry/182138)
UGT1A1
UDP Glucuronosyltransferase Family 1 Member A1
*1/*28 Decreased enzyme activity, increased risk for severe neutropenia with irinotecan and toxicity with nilotinib RightMed Comprehensive test (OneOme)

Gene/Phenotype summary of variants reported by the RightMed Comprehensive test (OneOme).