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.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

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+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 CYP2D6*5 Both (homozygous) - pathogenic g.(?_42522575)_(42526794_?)del - CYP2D6 deletion - CYP2D6_000000 11.5 kb XbaI allele PubMed: Gough 1990, OMIM:var0002 - - Germline yes 1/42 cases - - - DNA PCR - - DMBCYP2D6 - PubMed: Gough 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 CYP2D6*5 Parent #2 - pathogenic g.(?_42522575)_(42526794_?)del - CYP2D6 deletion - CYP2D6_000000 11.5 kb XbaI allele PubMed: Hanioka 1990, OMIM:var0002 - - Germline yes - - - - DNA PCR, SEQ - - DMBCYP2D6 - PubMed: Hanioka 1990 - - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 CYP2D6*5 Parent #2 - pathogenic g.(?_42522575)_(42526794_?)del - CYP2D6 deletion - CYP2D6_000000 no CYP2D6 activity PubMed: Broly 1995 - - Germline - - - - - DNA SEQ - - DMBup - PubMed: Broly 1995 - - - France white - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*1;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1010 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*5;CYP2D6*6 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13009 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*2;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 17002 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*1;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 21003 IP3 project, submitted - M no Netherlands Asian - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*1;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3033 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*1;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 42001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*4;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*1;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5003 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*5;CYP2D6*10 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 poor metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5006 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*1;CYP2D6*5 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6004 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*5;CYP2D6*9 Parent #1 - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 intermediate metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6015 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0? p.0? CYP2D6*5;CYP2D6*5 Both (homozygous) - benign (!) g.(?_42522575)_(42526794_?)del - CN1 - CYP2D6_000000 poor metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6017 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/+ _1_9_ c.(?_-1)_(*1_?)[2] r.506del p.Gly169Aspfs*14 CYP2D6*4X2 Parent #1 - pathogenic g.(?_42522576)_(42526793_?)[2] - - - CYP2D6_000000 reference haplotype CYP2D6*4X2; NOTE borders of the duplication to be checked Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_1)_(1494_?)[N] r.= p.= CYP2D6*1XN Parent #1 - pathogenic g.(?_42522576)_(42526793_?)[N] - - - CYP2D6_000000 reference haplotype CYP2D6*1XN (N = number of copies); NOTE borders of the duplication to be checked Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBr - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_1)_(1494_?)[N] r.= p.= CYP2D6*2XN Parent #1 - pathogenic g.(?_42522576)_(42526793_?)[N] - N = 2, 3, 4, 5, 13 - CYP2D6_000000 reference haplotype CYP2D6*1XN (N = 2, 3, 4, 5 or 13 copies) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_1)_(1494_?)[N] r.= p.= CYP2D6*17XN Parent #1 - pathogenic g.(?_42522576)_(42526793_?)[N] - N = 2, 3, 4, 5, 13 - CYP2D6_000000 reference haplotype CYP2D6*17XN Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1263_-1237A[N] r.= p.= CYP2D6*2M Parent #1 - benign g.42528030_42528056T[N] - -1258_-1237 varA - CYP2D6_000000 reference haplotype CYP2D6*2M Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs56358138 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1263_-1237A[N] r.= p.= CYP2D6*10B Parent #1 - benign g.42528030_42528056T[N] - -1258_-1237 varA - CYP2D6_000000 reference haplotype CYP2D6*10B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs56358138 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1263_-1237A[N] r.= p.= CYP2D6*36X2 Parent #1 - benign g.42528030_42528056T[N] - -1258_-1237 varA - CYP2D6_000000 reference haplotype CYP2D6*36X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs56358138 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1263_-1237A[N] r.= p.= CYP2D6*21A Parent #1 - benign g.42528030_42528056T[N] - -1258_-1237 varA - CYP2D6_000000 reference haplotype CYP2D6*21A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs56358138 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1263_-1237A[N] r.= p.= CYP2D6*45A Parent #1 - likely benign g.42528030_42528056T[N] - -1258-1237A[N] - CYP2D6_000000 reference haplotype CYP2D6*45A Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of '=', or '>'). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1_9 c.= r.= p.= CYP2D6*1 Parent #1 - benign g.= - - - CYP2D6_000000 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
+/+ _1_9_ c.(?_1)_(1494_?)dup{31G>A;408G>C;886C>T;1457G>C} r.= p.= CYP2D6*35X2 Parent #1 - pathogenic g.(?_42522576)_(42526793_?)dup - CYP2D6 duplicated - CYP2D6_000000 reference haplotype CYP2D6*35X2; gene duplicated Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBr - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1_9_ c.(?_1)_(1494_?)dup{841_843del} r.(=) p.(=) CYP2D6*9X2 Parent #1 - VUS g.(?_42522576)_(42526793_?)dup - 2615_2617delAAG duplicated - CYP2D6_000000 reference haplotype CYP2D6*9X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ _1_9_ c.(?_1)_(1494_?)dup{985+39G>A} r.spl p.? CYP2D6*41X2 Parent #2 - pathogenic g.(?_42522576)_(42526793_?)dup - CYP2D6 duplicated - CYP2D6_000000 - Beurmans, submitted - - Germline yes - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
+/. 7i c.1173+134_1470con r.? p.? CYP2D6*61 Parent #1 - pathogenic g.42522600_42523315con42536313_42537029 - - - CYP2D6_000000 reference haplotype CYP2D6*61; conversion to CYP2D7 sequence Reference Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/. 7i_9 c.1173+134_1470con r.? p.? - Parent #1 - pathogenic g.42522600_42523315con42536313_42537029 - - - CYP2D6_000000 conversion to CYP2D7 sequence PubMed: Kramer 2009 - - Germline - - - - - DNA SEQ, PCR - - - - PubMed: Kramer 2009 reference haplotype - - - - - - - - 1 Johan den Dunnen
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