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.

16 entries on 1 page. Showing entries 1 - 16.
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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     

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Panel size     

Owner     
+/+ 5 c.841_843del r.841_843del p.Lys281del CYP2D6*9 Parent #1 - pathogenic g.42524178_42524180del g.42128176_42128178del 2615_2617delAAG - CYP2D6_000014 reference haplotype CYP2D6*9; decreased activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs5030656 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/. - c.841_843del r.(?) p.(Lys281del) - Parent #1 - pathogenic g.42524178_42524180del g.42128176_42128178del - - CYP2D6_000014 c.841_843delAAG(=c.2615_2617delAAG); CYP2D6*9-Allel - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 5 c.841_843del r.(?) p.(Lys281del) CYP2D6*9X2 Parent #1 - pathogenic g.42524178_42524180del g.42128176_42128178del 2615_2617delAAG duplicated - CYP2D6_000014 reference haplotype CYP2D6*9X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs5030656 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/+ 5 c.841_843del r.(?) p.(Lys281del) CYP2D6*9 Parent #1 - pathogenic g.42524178_42524180del g.42128176_42128178del g.42128174_42128176delCTT - CYP2D6_000014 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
+/+ 5 c.841_843del r.(?) p.(Lys281del) CYP2D6*9 Parent #1 - pathogenic g.42524178_42524180del g.42128176_42128178del g.42128174_42128176delCTT - CYP2D6_000014 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
?/. 5 c.841_843del r.(spl?) p.(Lys281del) CYP2D6*109 Parent #1 - VUS g.42524178_42524180del g.42128176_42128178del 2615-2617delAAG (K281del) - CYP2D6_000014 reference haplotype CYP2D6*109 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs5030656 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*1;CYP2D6*9 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1004 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*1;CYP2D6*9 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13012 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*4;CYP2D6*9 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13018 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*2;CYP2D6*9 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 2002 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*4;CYP2D6*9 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 2005 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*1;CYP2D6*9 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3019 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*9;CYP2D6*41 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3028 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*9;CYP2D6*41 Unknown - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive metabolizer IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6010 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 5 c.841_843del r.(841_843del) p.(ALys281del) CYP2D6*5;CYP2D6*9 Parent #2 - benign (!) g.42524178_42524180del g.42128176_42128178del 2615delAAG - CYP2D6_000014 extensive 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
?/. - c.841_843del r.(?) p.(Lys281del) - Parent #1 - VUS g.42524178_42524180del g.42128176_42128178del - - CYP2D6_000014 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030656 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
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