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.

37 entries on 1 page. Showing entries 1 - 37.
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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     
-/- 7i c.1173+40A= r.= p.= CYP2D6*2L Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*2L (formerly CYP2D6*41B); NOTE reference sequence is not CYP2D6*1 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*2M Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*2M; NOTE reference sequence is not CYP2D6*1 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*4M Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*4M; NOTE reference sequence is not CYP2D6*1 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*4N;CYP2D6*4X2 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*4N; NOTE reference sequence is not CYP2D6*1 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*4P Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*4P; NOTE reference sequence is not CYP2D6*1 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*36 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*36 (formerly *10C); no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*31 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*31 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*46 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*46 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*35B Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*35B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*94B Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D94B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*95 Unknown - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*95 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*88 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*88 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*85 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*85 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*84 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*84 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*73 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*73 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*72 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*72 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*70 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*70 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*69 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*69 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*11 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 fully sequenced allele PubMed: Skierka 2012 - rs1985842 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*45B Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*45B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*45A Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*45A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.= p.= CYP2D6*56A Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*56A; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*56B Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*56B; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*58 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*58 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*57 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*57 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*65 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*65 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*64 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*64; activity untested (probably decreased) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*98 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*98 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*100 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*100 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*101 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*101 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*102 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*102 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*103 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*103 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*104 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*104 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*105 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*105 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*61 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*61 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*63 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 reference haplotype CYP2D6*63 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1985842 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 7i c.1173+40A= r.(=) p.(=) CYP2D6*63 Parent #1 - benign g.42523409G>T g.42127407= 3384A>C - CYP2D6_000053 - PubMed: Kramer 2009, GenBank EU530608 - rs1985842 Germline - - - - - DNA SEQ, PCR - - - - PubMed: Kramer 2009 reference haplotype - - - - - - - - 1 Johan den Dunnen
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