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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
?/. _1 c.-1426C>T r.= p.= CYP2D6*4N;CYP2D6*4X2 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*4N Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*4P Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*4P Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*10B Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*10B Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline no - - - - DNA, RNA RT-PCR, SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1426C>T r.= p.= CYP2D6*4M Parent #1 - likely benign g.42528219G>A g.42132217G>A - - CYP2D6_000065 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. 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
-?/. _1 c.-1426C>T r.= p.= CYP2D6*4M Parent #1 - likely benign g.42528219G>A g.42132217G>A - - CYP2D6_000065 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. 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
-?/. _1 c.-1426C>T r.= p.= CYP2D6*4M Both (homozygous) - likely benign g.42528219G>A g.42132217G>A - - CYP2D6_000065 other alelle *68 like (JF307779.1) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. 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
?/. _1 c.-1426C>T r.= p.= CYP2D6*47 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*47; negligible activity Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*49 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*49; decreased activity Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - DMBi - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*36 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*36 (formerly *10C); no activity Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*36X2 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*36X2 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*21A Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*21A Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*72 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*72 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*69 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*69 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1426C>T r.= p.= CYP2D6*4M Parent #2 - likely benign g.42528219G>A g.42132217G>A - - CYP2D6_000065 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. 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
-?/. _1 c.-1426C>T r.= p.= CYP2D6*4M Parent #2 - likely benign g.42528219G>A g.42132217G>A - - CYP2D6_000065 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. 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
-?/. _1 c.-1426C>T r.= p.= CYP2D6*4M Parent #2 - likely benign g.42528219G>A g.42132217G>A - - CYP2D6_000065 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. 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
-?/. _1 c.-1426C>T r.= p.= CYP2D6*10D Both (homozygous) - likely benign g.42528219G>A g.42132217G>A - - CYP2D6_000065 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. 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
?/. _1 c.-1426C>T r.= p.= CYP2D6*52 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*52 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*56B Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*56B; no activity Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*58 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*58 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*64 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*64; activity untested (probably decreased) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*100 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*100 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*101 Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*101 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*68A Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 reference haplotype CYP2D6*68A Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28588594 Germline - - - - - DNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1426C>T r.= p.= CYP2D6*68A Parent #1 - VUS g.42528219G>A - -1426C>T - CYP2D6_000065 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Kramer 2009, GenBank EU530606 - rs28588594 Germline - - - - - DNA SEQ, PCR - - - - PubMed: Kramer 2009 reference haplotype - - - - - - - - 1 Johan den Dunnen
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