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.

35 entries on 1 page. Showing entries 1 - 35.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 1i c.180+43C>G r.(=) p.(=) CYP2D6*41 Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - 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
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*35A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2AX2 Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*41 Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*35A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A/*41 Both (homozygous) - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*21A Parent #1 - benign g.42526571= g.42130569G>C 223C>G - CYP2D6_000153 reference haplotype CYP2D6*21A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. 1i c.180+43C>G r.= p.= CYP2D6*88 Parent #1 - benign g.42526571= g.42130569G>C 223C>G - CYP2D6_000153 reference haplotype CYP2D6*88 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. 1i c.180+43C>G r.(=) p.(=) CYP2D6*84 Parent #1 - benign g.42526571= g.42130569G>C 223C>G - CYP2D6_000153 reference haplotype CYP2D6*84 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. 1i c.180+43C>G r.(=) p.(=) CYP2D6*73 Parent #1 - benign g.42526571= g.42130569G>C 223C>G; con in1 - CYP2D6_000153 reference haplotype CYP2D6*73 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*41 Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*41X2 Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A Both (homozygous) - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A Both (homozygous) - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*17 Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*35A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*35A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*35A Both (homozygous) - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*2A Parent #2 - benign g.42526571= g.42130569G>C - - CYP2D6_000153 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*11 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 fully sequenced allele PubMed: Skierka 2012 - rs74644586 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*51 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*51 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*56A Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*56A; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*58 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*58 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*21B Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*21B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*98 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*98 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*102 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*102 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*103 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*103 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*104 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*104 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*105 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*105 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*63 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 reference haplotype CYP2D6*63 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs74644586 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 1i c.180+43C>G r.(=) p.(=) CYP2D6*63 Parent #1 - benign g.42526571= g.42130569G>C 223C>G (1i conversion) - CYP2D6_000153 - PubMed: Kramer 2009, GenBank EU530608 - rs74644586 Germline - - - - - DNA SEQ, PCR - - - - PubMed: Kramer 2009 reference haplotype - - - - - - - - 1 Johan den Dunnen
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