CYP2D6*1A
CYP2D6.1 None 29 Wild-type . Normal Normal Kimura et al, 1989
CYP2D6*1B
CYP2D6.1 3828G>A
29 . . Normal
(d, s) . Marez et al, 1997
CYP2D6*1C
CYP2D6.1 1978C>T.
M4 . Normal (s) . Marez et al, 1997
CYP2D6*1D
CYP2D6.1 2575C>A.
M5 . . . Marez et al, 1997
CYP2D6*1E
CYP2D6.1 1869T>C.
. . . . Sachse et al, 1997
CYP2D6*1XN
CYP2D6.1 . 42 . N active
genes Incr . Dahl et al, 1995
Sachse et al, 1997
CYP2D6*2A
CYP2D6.2 -1584C>G; -1235A>G; -740C>T; -678G>A;
CYP2D7 gene conversion in intron 1; 1661G>C;
2850C>T; 4180G>C29
CYP2D6L R296C; S486T Normal
(dx,d,s) Johansson et al, 1993
Panserat et al, 1994
Raimundo et al, 2000
See also comment below the table.
CYP2D6*2B
CYP2D6.2 1039C>T; 1661G>C;
2850C>T; 4180G>C. . R296C; S486T . . Marez et al, 1997
CYP2D6*2C
CYP2D6.2 1661G>C;
2470T>C; 2850C>T; 4180G>C. . R296C; S486T . . Marez et al, 1997
Sachse et al, 1997
CYP2D6*2D
CYP2D6.2 2850C>T;
4180G>C. M10 R296C; S486T . . Marez et al, 1997
CYP2D6*2E
CYP2D6.2 997C>G; 1661G>C;
2850C>T; 4180G>C. M12 R296C; S486T . . Marez et al, 1997
CYP2D6*2F
CYP2D6.2 1661G>C;
1724C>T; 2850C>T; 4180G>C. M14 R296C; S486T . . Marez et al, 1997
CYP2D6*2G
CYP2D6.2 1661G>C;
2470T>C; 2575C>A; 2850C>T; 4180G>C. M16 R296C; S486T . . Marez et al,
1997
CYP2D6*2H
CYP2D6.2 1661G>C;
2480C>T; 2850C>T; 4180G>C. M17 R296C; S486T . . Marez et al, 1997
CYP2D6*2J
CYP2D6.2 1661G>C;
2850C>T; 2939G>A; 4180G>C. M18 R296C; S486T . . Marez et al, 1997
CYP2D6*2K
CYP2D6.2 1661G>C;
2850C>T; 4115C>T; 4180G>C. M21 R296C; S486T . . Marez et al, 1997
CYP2D6*2XN
(N=2, 3, 4, 5 or 13)
CYP2D6.2 1661G>C; 2850C>T; 4180G>C 42-175 . R296C; S486T
N active genes Incr
(d) . Johansson et al, 1993
Dahl et al, 1995
Aklillu et al, 1996
CYP2D6*3A . 2549A>del29
CYP2D6A Frameshift None
(d, s) None
(b) Kagimoto et al, 1990
CYP2D6*3B . 1749A>G; 2549A>del.
. N166D; frameshift . . Marez et al, 1997
CYP2D6*4A . 100C>T;
974C>A; 984A>G; _997C>G; 1661G>C; 1846G>A; 4180G>C44, 29, 16+9
CYP2D6B P34S; L91M; H94R; Splicing defect; S486T None
(d, s) None
(b) Kagimoto et al, 1990
Gough et al, 1990
Hanioka et al, 1990
CYP2D6*4B . 100C>T;
974C>A; 984A>G; 997C>G; 1846G>A; 4180G>C29
CYP2D6B P34S; L91M; H94R; Splicing defect; S486T None
(d, s) None
(b) Kagimoto et al, 1990
CYP2D6*4C . 100C>T;
1661G>C; 1846G>A; 3887T>C; 4180G>C44/29 K29-1 P34S; Splicing defect
; L421P; S486T None . Yokota et al, 1993
CYP2D6*4D . 100C>T;
1039C>T; 1661G>C; 1846G>A; 4180G>C. . P34S; Splicing defect ; S486T
None (dx) . Marez et al, 1997
CYP2D6*4E . 100C>T;
1661G>C; 1846G>A; 4180G>C. . P34S; Splicing defect ; S486T . . Marez
et al, 1997
CYP2D6*4F . 100C>T;
974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 1858C>T; 4180G>C . . P34S;
L91M; H94R; Splicing defect; R173C; S486T . . Marez et al, 1997
CYP2D6*4G . 100C>T;
974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2938C>T; 4180G>C. . P34S;
L91M; H94R; Splicing defect; P325L; S486T . . Marez et al, 1997
CYP2D6*4H . 100C>T;
974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 3877G>C; 4180G>C. . P34S;
L91M; H94R; Splicing defect; E418Q; S486T . . Marez et al, 1997
CYP2D6*4J . 100C>T;
974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A. . P34S; L91M; H94R; Splicing
defect . . Marez et al, 1997
CYP2D6*4K . 100C>T;
1661G>C; 1846G>A; 2850C>T; 4180G>C. . P34S; Splicing defect ; R296C;
S486T None . Sachse et al, 1997
CYP2D6*4L 100C>T;
997C>G; 1661G>C; 1846G>A ; 4180G>C P34S; Splicing defect; S486T Shimada
et al, 2001
CYP2D6*4X2 . . 32+9 . . None . Løvlie et al, 1997
Sachse et al, 1998
CYP2D6*5 .
CYP2D6 deleted 11.5 or 13
CYP2D6D
CYP2D6 deleted None
(d, s) . Gaedigk et al, 1991
Steen et al, 1995
CYP2D6*6A . 1707T>del29
CYP2D6T Frameshift None
(d, dx) . Saxena et al, 1994
CYP2D6*6B . 1707T>del;
1976G>A29 . Frameshift; G212E None
(s, d) . Evert et al, 1994
Daly et al, 1995
CYP2D6*6C . 1707T>del;
1976G>A; 4180G>C. . Frameshift; G212E; S486T None (s) . Marez et al,
1997
CYP2D6*6D . 1707T>del;
3288G>A. . Frameshift; G373S . . Marez et al, 1997
CYP2D6*7
CYP2D6.7 2935A>C29
CYP2D6E H324P None
(s) . Evert et al, 1994
CYP2D6*8 . 1661G>C;
1758G>T ; 2850C>T; 4180G>C.
CYP2D6G Stop codon; R296C; S486T None
(d, s) . Broly et al, 1995
CYP2D6*9
CYP2D6.9 2613-2615delAGA29
CYP2D6C K281delDecr
(b,s,d) Decr
(b,s,d) Tyndale et al, 1991
Broly & Meyer, 1993
CYP2D6*10A
CYP2D6.10 100C>T;
1661G>C; 4180G>C44, 29
CYP2D6J P34S; S486T Decr
(s) . Yokota et al, 1993
CYP2D6*10B
CYP2D6.10 100C>T;
1039C>T; 1661G>C; 4180G>C44, 29
CYP2D6Ch1 P34S; S486T Decr
(d) Decr
(b) Johansson et al, 1994
CYP2D6*10C see
CYP2D6*36
CYP2D6*11 . 883G>C;
1661G>C; 2850C>T; 4180G>C 29
CYP2D6F Splicing defect; R296C; S486T None
(s) . Marez et al, 1995
CYP2D6*12
CYP2D6.12 124G>A;
1661G>C; 2850C>T; 4180G>C 29 . G42R; ; R296C; S486T None
(s) . Marez et al, 1996
CYP2D6*13 .
CYP2D7P/
CYP2D6 hybrid.
Exon 1
CYP2D7, exons 2-9
CYP2D6 . 29 . Frameshift None
(dx) . Panserat et al, 1995
CYP2D6*14A
CYP2D6.14A 100C>T;
1758G>A ; 2850C>T; 4180G>C 29 . P34S; G169R; R296C; S486T None
(d) . Wang, 1992
Wang et al, 1999
CYP2D6*14B
CYP2D6.14B intron 1
conversion with
CYP2D7 (214-245); 1661G>C; 1758G>A; 2850C>T; 4180G>C
CYP2D6*15 . 138insT29
. Frameshift None
(d, dx) . Sachse et al, 1996
CYP2D6*16 .
CYP2D7P/
CYP2D6 hybrid. Exons1-7
CYP2D7P-related, exons 8-9
CYP2D6. 11
CYP2D6D2 Frameshift None
(d) . Daly et al, 1996
CYP2D6*17
CYP2D6.17 1023C>T;
1638G>C: 2850C>T; 4180G>C 2 9
CYP2D6Z T107I; R296C ; S486T Decr
(d) Decr
(b) Masimirembwa et al, 1996
Oscarson et al, 1997
CYP2D6*18
CYP2D6.18 4125-4133insGTGCCCACT29
CYP2D6(J9) 468-470VPT ins None (s) Decr (b) Yokoi et al, 1996
CYP2D6*19 . 1661G>C;
2539-2542delAACT; 2850C>T; 4180G>C. . Frameshift; R296C; S486T None
. Marez et al, 1997
CYP2D6*20 . 1661G>C;
1973insG ;1978C>T; 1979T>C; 2850C>T; 4180G>C. . Frameshift ; L213S;
R296C; S486T
None (m) . Marez-Allorge et al, 1999
CYP2D6*21
CYP2D6.21 -1584C>G; -1426C>T; -1258insAAAAA; -1235A>G; -740C>T; -678G>A;
-629A>G; 214G>C; 221C>A; 223C>G; 227T>C; 310G>T; 601delC; 1661G>C; 2573insC;
2850C>T; 3584G>A; 4180G>C; 4653_4655delACA
Frameshift; R296C; S486T None
Chida et al, 1999
More detailed information submitted 7-May-2002 by Dr. Jae-Gook Shin.
CYP2D6*22
CYP2D6.22 82C>T.
M2 R28C . . Marez et al, 1997
CYP2D6*23
CYP2D6.23 957C>T.
M3 A85V . . Marez et al, 1997
CYP2D6*24
CYP2D6.24 2853A>C.
M6 I297L . . Marez et al, 1997
CYP2D6*25
CYP2D6.25 3198C>G.
M7 R343G . . Marez et al, 1997
CYP2D6*26
CYP2D6.26 3277T>C.
M8 I369T . . Marez et al, 1997
CYP2D6*27
CYP2D6.27 3853G>A.
M9 E410K . . Marez et al, 1997
CYP2D6*28
CYP2D6.28 19G>A; 1661G>C; 1704C>G; 2850C>T;
4180G>C. M11 V7M; Q151E; R296C; S486T . . Marez et al, 1997
CYP2D6*29
CYP2D6.29 1659G>A;
1661G>C; 2850C>T; 3183G>A; 4180G>C. M13 V136M; R296C; V338M; S486T
. . Marez et al, 1997
CYP2D6*30
CYP2D6.30 1661G>C; 1863 ins 9bp rep; 2850C>T;
4180G>C. M15 172-174FRP rep; R296C; S486T . . Marez et al, 1997
CYP2D6*31
CYP2D6.31 1661G>C;
2850C>T; 4042G>A; 4180G>C. M20 R296C; R440H; S486T . . Marez et al,
1997
CYP2D6*32
CYP2D6.32 1661G>C;
2850C>T; 3853G>A; 4180G>C. M19 R296C; E410K; S486T . . Marez et al,
1997
CYP2D6*33
CYP2D6.33 2483G>T.
CYP2D6*1C A237S Normal (s) . Marez et al, 1997
CYP2D6*34
CYP2D6.34 2850C>T.
CYP2D6*1D R296C . . Marez et al, 1997
CYP2D6*35
CYP2D6.35 -1584C>G; 31G>A; 1661G>C; 2850C>T; 4180G>C.
CYP2D6*2B V11M; R296C; S486T Normal (s) . Marez et al, 1997
Gaedigk et al, in press
CYP2D6*35X2
CYP2D6.35 31G>A; 1661G>C;
2850C>T; 4180G>C. . V11M; R296C; S486T Incr . Griese et al, 1998
CYP2D6*36
CYP2D6.36 100C>T;
1039C>T; 1661G>C; 4180G>C;gene conversion to
CYP2D7 in exon 9 44, 29
CYP2D6Ch2 P34S; S486T Decr
(d) Decr
(b) Wang, 1992
Johansson et al, 1994
Leathart et al, 1998
CYP2D6*37
CYP2D6.37 100C>T;
1039C>T; 1661G>C; 1943G>A; 4180G>C;.
CYP2D6*10D P34S; R201H; S486T . . Marez et al, 1997
CYP2D6*38 . 2587-2590delGACT.
N2 Frameshift None . Leathart et al, 1998
CYP2D6*39
CYP2D6.39 1661G>C;
4180G>C S486T Shimada et al, 2001
CYP2D6*40
CYP2D6.40 1023C>T; 1661G>C; 1863 ins(TTT CGC CCC)2; 2850 C>T; 4180G>C
T107I; 172-174(FRP)3; R296C; S486T None (dx) Gaedigk et al, 2002a
CYP2D6*41
CYP2D6.2 -1584C; -1235A>G; -740C>T; -678G>A;
CYP2D7 gene conversion in intron 1; 1661G>C;
2850C>T; 4180G>C R296C; S486T Decr (s) Raimundo et al, 2000
This allele is being further characterised.
CYP2D6*42
-1584C; 1661G>C;
2850C>T; 3259insGT; 4180G>C R296C; Frameshift S486T None (dx) Gaedigk
et al, 2002b
CYP2D6*43
CYP2D6.43 77G>A
M1 R26H
Marez et al, 1997