Full data view for gene CYP2D6

CYP2D6 reference haplotypes. Download the current CYP2D6 DRAFT reference haplotype list (ver.2015-07-24).
NOTE: the coding DNA reference sequence represents haplotype CYP2D6*1 which differs from the reference genome sequence (build hg19). For the coding region the differences include c.408C>G, c.886T>C and c.1457C>G.
Information The variants shown are described using the NM_000106.4 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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AscendingDNA change (cDNA)     

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+/+ _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*36X2 Parent #1 - pathogenic g.(?_42522575)_(42526792_?)dup - CYP2D6 duplicated - CYP2D6_000279 reference haplotype CYP2D6*36X2, found as duplicated CYP2D6*36 gen sequence or combined with CYP2D6*10 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*2AX2 Parent #2 - pathogenic g.(?_42522575)_(42526792_?)dup - CYP2D6 duplicated - CYP2D6_000279 - Beurmans, submitted - - Germline yes - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
+/+ _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*2X2 Parent #1 - pathogenic g.(?_42522575)_(42526792_?)dup - CYP2D6 duplicated - CYP2D6_000279 - Beurmans, submitted - - Germline yes - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
+/+ _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*1X2 Parent #1 - pathogenic g.(?_42522575)_(42526792_?)dup - CYP2D6 duplicated - CYP2D6_000279 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline yes - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
+/+ _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*10X2 Parent #1 - pathogenic g.(?_42522575)_(42526792_?)dup - CYP2D6 duplicated - CYP2D6_000279 reference haplotype CYP2D6*10X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+?/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*4N;CYP2D6*4X2 Parent #1 - likely pathogenic g.(?_42522575)_(42526792_?)dup - - - CYP2D6_000279 reference haplotype CYP2D6*4N, contains duplicated CYP2D6*4N gene sequence Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*2;CYP2D6*2XN Unknown - benign (!) g.(?_42522575)_(42526794_?)dup - CN3 - CYP2D6_000279 ultra-rapid metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13006 IP3 project, submitted - M no Netherlands Arabic - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*1(xN);CYP2D6*2(xN) Unknown - benign (!) g.(?_42522575)_(42526794_?)dup - CN3 - CYP2D6_000279 ultra-rapid metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25013 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*1(xN);CYP2D6*2(xN) Unknown - benign (!) g.(?_42522575)_(42526794_?)dup - CN3 - CYP2D6_000279 ultra-rapid metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 27011 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*1(xN);CYP2D6*10(xN) Unknown - benign (!) g.(?_42522575)_(42526794_?)dup - CN3 - CYP2D6_000279 ultra-rapid metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3015 IP3 project, submitted - F no Netherlands Asian - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*1;CYP2D6*41(xN) Unknown - benign (!) g.(?_42522575)_(42526794_?)dup - CN3 - CYP2D6_000279 ultra-rapid metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 41005 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*2(xN);CYP2D6*41(xN) Unknown - benign (!) g.(?_42522575)_(42526794_?)dup - CN3 - CYP2D6_000279 ultra-rapid metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5008 IP3 project, submitted - M no Netherlands Arabic - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*2X2;CYP2D6*4 Unknown - benign (!) g.(?_42522575)_(42526794_?)dup - CN3 - CYP2D6_000279 ultra-rapid metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6016 IP3 project, submitted - M no Netherlands Arabic - - - - 1 Jesse Swen
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