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.

296 entries on 3 pages. Showing entries 1 - 100.
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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     

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Age at death     

VIP     

Data_av     

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Owner     
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr - Parent #1 - likely benign g.42522613C>G - - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Gough 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBCYP2D6 - PubMed: Gough 1990 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(?) p.(Ser486Thr) - Parent #1 - VUS g.42522613C>G - G4268C (S486T) - CYP2D6_000010 44 kb XbaI allele Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hanioka 1990 - - Germline - - - - - DNA PCR, SEQ - - DMBCYP2D6 - PubMed: Hanioka 1990 - - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2D Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2D Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*10A Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*10A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*8 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*8 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*11 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*11 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*12 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*12 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*17 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*17 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*29 Parent #1 - likely benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*29 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*41 Parent #1 - likely benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*41 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*46 Parent #1 - likely benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*46 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2A Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2B Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2B Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2C Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2C Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2E Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2E Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2F Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2F Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2G Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2G Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2H Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2H Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2XN Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2XN Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2J;CYP2D6*59 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*59 (*2J) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2K Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2K Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2L Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2L (formerly CYP2D6*41B) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*2M Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*2M Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4A Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4B Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4B Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4C Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4C Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4D Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4D Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4E Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4E Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4F Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4F Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4G Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4G Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4H Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4H Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4K Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4K Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4L Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4L Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4N;CYP2D6*4X2 Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4N Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*4P Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*4P Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*6C Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*6C; no activity Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*10B Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*10B Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*10D Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*10D Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*14A Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*14A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*14B Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*14B Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c - CYP2D6*20A Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*20A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*19A Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*19A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*28 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*28 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*30 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*30 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*32 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*32 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline no - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*35A Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*35A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*35X2 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*35X2 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBr - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*39 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*39 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*37 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*37 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*40 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*40 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*42 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*42 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*2/*44 Parent #1 - benign g.42522613C>G - CYP2D6*2 - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamazaki 2003 - - Germline - - - - - DNA SEQ - - DMBp - PubMed: Yamazaki 2003 - - - Japan - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*41 Parent #2 - likely benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. 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
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*35A Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*2A Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*2A Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*2AX2 Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*41 Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*2A Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - Healthy/Control - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*4M/*35A Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*2A/*4M Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*2A/*41 Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*4M Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 other alelle *68 like (JF307779.1) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBp - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*40/*42 Both (homozygous) - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - rs1135840 Germline - - - - - DNA SEQ - - DMBp - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - ? no United States African-American >00y12m - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*17/*42 Both (homozygous) - benign g.42522613C>G - 4180G>C - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - rs1135840 Germline - - - - - DNA SEQ - - ? - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - - - United States - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*17/*42 Both (homozygous) - benign g.42522613C>G - 4180G>C - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - rs1135840 Germline - - - - - DNA SEQ - - ? - PubMed: Gaedigk 2003, Journal: Gaedigk 2003 - ? ? United States - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*47 Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*47; negligible activity Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*49 Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*49; decreased activity Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*36 Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*36 (formerly *10C); no activity Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*36X2 Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*36X2 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*31 Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*31 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*21A Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*21A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*21B Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*21B Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. 9 c.1457G>C r.(=) p.Ser486Thr CYP2D6*35B Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*35B Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*94A Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*94A Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*94B Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*94B Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*95 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*95 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*87 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*87 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.(?) p.(Ser486Thr) CYP2D6*88 Parent #1 - benign g.42522613C>G - 4180G>C - CYP2D6_000010 reference haplotype CYP2D6*88 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*85 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*85 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*83 Parent #1 - benign g.42522613C>G - 4180G>C (S486T); con ex9 - CYP2D6_000010 reference haplotype CYP2D6*83 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*84 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*84 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*73 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*73 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*72 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*72 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*70 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*70 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*69 Parent #1 - benign g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*69 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*41 Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*41X2 Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*4M Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*4M Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*2A Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*2A Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*17 Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*4M Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBp - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*35A Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*35A Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBur - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*35A Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*2A Parent #2 - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
-/- 9 c.1457G>C r.(=) p.(Ser486Thr) CYP2D6*10D Both (homozygous) - benign g.42522613C>G g.42126611C>G - - CYP2D6_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - DNA SEQ, SEQ-PB - - DMBi - PubMed: Buermans 2017, Journal: Buermans 2017 - - no Netherlands - - - - - 1 Henk Buermans
?/. 9 c.1457G>C r.1457g>c p.Ser486Thr CYP2D6*17XN Parent #1 - VUS g.42522613C>G - 4180G>C (S486T) - CYP2D6_000010 reference haplotype CYP2D6*17XN Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1135840 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
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