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.

20 entries on 1 page. Showing entries 1 - 20.
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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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Disease     

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Owner     
-/. 2 c.294C>G r.294c>g p.Thr98= - Parent #1 - benign g.42525798G>C g.42129796G>C - - CYP2D6_000007 - PubMed: Gough 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBCYP2D6 - PubMed: Gough 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. 2 c.294C>G r.(?) p.(=) - Parent #1 - likely benign g.42525798G>C g.42129796G>C C1085G - CYP2D6_000007 44 kb XbaI allele PubMed: Hanioka 1990 - - Germline - - - - - DNA PCR, SEQ - - DMBCYP2D6 - PubMed: Hanioka 1990 - - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.(=) p.Thr98= CYP2D6*2E Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*2E Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4A Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4B Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4F Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4F Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4G Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4G Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4H Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4H Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4J Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4J Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4M Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4M Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4N;CYP2D6*4X2 Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4N Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4P Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G - CYP2D6_000007 reference haplotype CYP2D6*4P Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.= p.Thr98= CYP2D6*4L Parent #1 - benign g.42525798G>C g.42129796G>C 997G>C - CYP2D6_000007 reference haplotype CYP2D6*4L Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.(?) p.(Thr98=) CYP2D6*4M Parent #1 - benign g.42525798G>C g.42129796G>C - - CYP2D6_000007 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 2 c.294C>G r.(?) p.(Thr98=) CYP2D6*4M Parent #1 - benign g.42525798G>C g.42129796G>C - - CYP2D6_000007 - 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.294C>G r.(?) p.(Thr98=) CYP2D6*4M Both (homozygous) - benign g.42525798G>C g.42129796G>C - - CYP2D6_000007 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
-/- 2 c.294C>G r.(=) p.Thr98= CYP2D6*82 Parent #1 - benign g.42525798G>C g.42129796G>C 997C>G; con ex2 - CYP2D6_000007 reference haplotype CYP2D6*82 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371705 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 2 c.294C>G r.294c>g p.Thr98= CYP2D6*4M Parent #2 - benign g.42525798G>C g.42129796G>C - - CYP2D6_000007 - 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.294C>G r.294c>g p.Thr98= CYP2D6*4M Parent #2 - benign g.42525798G>C g.42129796G>C - - CYP2D6_000007 - 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.294C>G r.294c>g p.Thr98= CYP2D6*4M Parent #2 - benign g.42525798G>C g.42129796G>C - - CYP2D6_000007 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBp - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
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