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.

187 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2D Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2D Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*8 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*8 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*11 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*11 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*12 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*12 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*17 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*17 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*29 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*29 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*41 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*41 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*46 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*46 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2B Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2C Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2C Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2E Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2E Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2F Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2F Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2G Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2G Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2H Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2H Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2XN Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2XN Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2J;CYP2D6*59 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*59 (*2J) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2K Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2K Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2L Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2L (formerly CYP2D6*41B) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2M Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 reference haplotype CYP2D6*2M Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*4K Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*4K Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*14A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*14A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*14B Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*14B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u - CYP2D6*20A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*20A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*19A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*19A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*28 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*28 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*30 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*30 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*32 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*32 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline no - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*35A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*35A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*35X2 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*35X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBr - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*34 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*34 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*40 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*40 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*42 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*42 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*2/*44 Parent #1 - benign g.42523943= g.42127941G>A CYP2D6*2 - CYP2D6_000012 - PubMed: Yamazaki 2003 - - Germline - - - - - DNA SEQ - - DMBp - PubMed: Yamazaki 2003 - - - Japan - - - - - 1 Johan den Dunnen
-/. 6 c.886C>T r.(=) p.(Arg298Cys) CYP2D6*41 Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*2A Parent #2 - pathogenic g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*2A Parent #2 - pathogenic g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*2AX2 Parent #2 - pathogenic g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*41 Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*2A Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*35A Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*2A Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(?) p.(Arg298Cys) CYP2D6*2A/*41 Both (homozygous) - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*4M Both (homozygous) - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 other alelle *68 like (JF307779.1) PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - rs16947 Germline - - - - - DNA SEQ - - DMBp - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - ? no United States African-American >00y12m - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*17/*42 Both (homozygous) - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - rs16947 Germline - - - - - DNA SEQ - - ? - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - - - United States - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*17/*42 Both (homozygous) - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - rs16947 Germline - - - - - DNA SEQ - - ? - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - ? ? United States - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*31 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*31 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*21A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*21A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*21B Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*21B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*35B Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*35B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*91 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*91 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*85 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*85 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*84 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*84 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*73 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*73 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*69 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*69 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*41 Parent #2 - pathogenic g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*41X2 Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*2A Both (homozygous) - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*2A Both (homozygous) - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*17 Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*35A Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*35A Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*35A Both (homozygous) - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.(=) p.(Arg296Cys) CYP2D6*2A Parent #2 - benign g.42523943= g.42127941G>A - - CYP2D6_000012 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*17XN Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*17XN Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*11 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 fully sequenced allele PubMed: Skierka 2012 - rs16947 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*45B Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*45B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*45A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*45A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*51 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*51 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*55 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*55 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*56A Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*56A; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*58 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*58 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*65 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*65 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*98 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*98 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*102 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*102 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*103 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*103 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*104 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*104 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*105 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*105 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*63 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 reference haplotype CYP2D6*63 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs16947 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*63 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T (R296C) - CYP2D6_000012 - PubMed: Kramer 2009, GenBank EU530608 - rs16947 Germline - - - - - DNA SEQ, PCR - - - - PubMed: Kramer 2009 reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.(?) p.(Arg296Cys) CYP2D6*8 Parent #1 - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - PubMed: Broly 1995 - - Germline - - - - - DNA SEQ - - DMBup - PubMed: Broly 1995 - - - France white - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*41 Both (homozygous) - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - PubMed: Toscano 2006 - rs16947 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBp - PubMed: Toscano 2006 - - - Germany - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T - p.Arg296Cys CYP2D6*51 Parent #1 - NA g.42523943= g.42127941G>A R296C - CYP2D6_000012 cDNA expression cloning in COS-7 cells shows reduced (0.6) protein expression and reduced (0.1) enzymatic activity for bufuralol and dextromethorphan PubMed: Sakuyama 2008, Journal: Sakuyama 2008 - - In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T - p.Arg296Cys CYP2D6*55 Parent #1 - NA g.42523943= g.42127941G>A R296C - CYP2D6_000012 cDNA expression cloning in COS-7 cells shows reduced (0.3) protein expression and reduced (0.5) enzymatic activity for bufuralol and dextromethorphan PubMed: Sakuyama 2008, Journal: Sakuyama 2008 - - In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T - p.Arg296Cys CYP2D6*14A Parent #1 - NA g.42523943= g.42127941G>A R296C - CYP2D6_000012 cDNA expression cloning in COS-7 cells shows reduced (0.6) protein expression and no enzymatic activity for bufuralol and dextromethorphan PubMed: Sakuyama 2008, Journal: Sakuyama 2008 - - In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T - p.Arg296Cys CYP2D6*14B Parent #1 - NA g.42523943= g.42127941G>A R296C - CYP2D6_000012 cDNA expression cloning in COS-7 cells shows reduced (0.8) protein expression and reduced (0.7) enzymatic activity for bufuralol and dextromethorphan PubMed: Sakuyama 2008, Journal: Sakuyama 2008 - - In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2J;CYP2D6*59 Parent #1 - NA g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 gene expression cloning Huh7 hepatoma cells shows reduced (0.37) protein expression and reduced (0.30) propafenone activity PubMed: Toscano 2006, Journal: Toscano 2006 - rs16947 In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2J1 Parent #1 - NA g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 allele *2J1 - gene expression cloning Huh7 hepatoma cells shows reduced (0.35) protein expression and reduced (0.4) propafenone activity PubMed: Toscano 2006, Journal: Toscano 2006 - rs16947 In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2J2 Parent #1 - NA g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 allele *2J2 - gene expression cloning Huh7 hepatoma cells shows reduced (0.35) protein expression and reduced (0.4) propafenone activity PubMed: Toscano 2006, Journal: Toscano 2006 - rs16947 In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/- 6 c.886C>T r.886c>u p.Arg296Cys CYP2D6*2 Parent #1 - NA g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 allele *2J - gene expression cloning Huh7 hepatoma cells shows increased (1.7) protein expression and increased (1.6) propafenone activity PubMed: Toscano 2006, Journal: Toscano 2006 - rs16947 In vitro (cloned) - - - - - protein expr - - Healthy/Control In vitro assays - individual does not exist, used to allow reporting of functional testing multi-variant alleles - - - - - - - - 1 Johan den Dunnen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*1;CYP2D6*41 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*2;CYP2D6*2 Both (homozygous) - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1003 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*1;CYP2D6*41 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1005 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*4;CYP2D6*41 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1007 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*1;CYP2D6*41 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1008 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*1;CYP2D6*2 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1009 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*4;CYP2D6*41 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1013 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*1;CYP2D6*2 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1014 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*2;CYP2D6*4 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 11010 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/. 6 c.886C>T r.(886c>u) p.(Arg298Cys) CYP2D6*1;CYP2D6*2 Unknown - benign g.42523943= g.42127941G>A 2850C>T - CYP2D6_000012 - IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 12003 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
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