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.

21 entries on 1 page. Showing entries 1 - 21.
Legend   How to query  

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     
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*2B Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*2B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*4D Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*4D Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*10B Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*10B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*10D Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*10D Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*37 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*37 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*47 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*47; negligible activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*49 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*49; decreased activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*36 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*36 (formerly *10C); no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*36X2 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*36X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*94A Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*94A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*94B Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*94B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*95 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*95 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*87 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*87 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.Phe112= CYP2D6*72 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*72 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.(=) p.(Phe112=) CYP2D6*10D Both (homozygous) - benign g.42525756G>A g.42129754G>A - - CYP2D6_000040 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 2 c.336C>T r.(?) p.(Phe112=) CYP2D6*52 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*52 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.336c>u p.(Phe112=) CYP2D6*54 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*54; decreased activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.(=) p.(Phe112=) CYP2D6*56B Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*56B; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.(=) p.(Phe112=) CYP2D6*57 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*57 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.(=) p.(Phe112=) CYP2D6*100 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*100 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.336C>T r.(=) p.(Phe112=) CYP2D6*101 Parent #1 - benign g.42525756G>A g.42129754G>A 1039C>T - CYP2D6_000040 reference haplotype CYP2D6*101 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1081003 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.