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.

23 entries on 1 page. Showing entries 1 - 23.
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     
-/- _1 c.-1000G>A r.= p.= CYP2D6*4N;CYP2D6*4X2 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*4N Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*4P Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*4P Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*10B Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*10B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1000G>A r.= p.= CYP2D6*4M Parent #1 - likely benign g.42527793C>T g.42131791C>T - - CYP2D6_000066 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-?/. _1 c.-1000G>A r.= p.= CYP2D6*4M Parent #1 - likely benign g.42527793C>T g.42131791C>T - - CYP2D6_000066 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-?/. _1 c.-1000G>A r.= p.= CYP2D6*4M Both (homozygous) - likely benign g.42527793C>T g.42131791C>T - - CYP2D6_000066 other alelle *68 like (JF307779.1) PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBp - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- _1 c.-1000G>A r.= p.= CYP2D6*47 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*47; negligible activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*49 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*49; decreased activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*36 Parent #1 - benign g.42527793C>T g.42131791C>T -1000G>A - CYP2D6_000066 reference haplotype CYP2D6*36 (formerly *10C); no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*36X2 Parent #1 - benign g.42527793C>T g.42131791C>T -1000G>A - CYP2D6_000066 reference haplotype CYP2D6*36X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*72 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*72 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*69 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*69 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1000G>A r.= p.= CYP2D6*4M Parent #2 - likely benign g.42527793C>T g.42131791C>T - - CYP2D6_000066 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-?/. _1 c.-1000G>A r.= p.= CYP2D6*4M Parent #2 - likely benign g.42527793C>T g.42131791C>T - - CYP2D6_000066 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-?/. _1 c.-1000G>A r.= p.= CYP2D6*4M Parent #2 - likely benign g.42527793C>T g.42131791C>T - - CYP2D6_000066 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBp - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-?/. _1 c.-1000G>A r.= p.= CYP2D6*10D Both (homozygous) - likely benign g.42527793C>T g.42131791C>T - - CYP2D6_000066 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- _1 c.-1000G>A r.= p.= CYP2D6*52 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*52 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*56B Parent #1 - benign g.42527793C>T g.42131791C>T -1000G>A - CYP2D6_000066 reference haplotype CYP2D6*56B; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*64 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*64; activity untested (probably decreased) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*100 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*100 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*101 Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*101 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*68A Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 reference haplotype CYP2D6*68A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080989 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- _1 c.-1000G>A r.= p.= CYP2D6*68A Parent #1 - benign g.42527793C>T g.42131791C>T -1000A>G - CYP2D6_000066 - PubMed: Kramer 2009, GenBank EU530606 - rs1080989 Germline - - - - - DNA SEQ, PCR - - - - PubMed: Kramer 2009 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.