Unique variants in the CYP2D6 gene

Information The variants shown are described using the NM_000106.6 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/., ./. 4 1 c.100C>T - r.(?) p.(Pro34Ser) - Likely benign, drug response, other, ClinVar g.42130692G>A P34S Fee Wai Chin et al. (2016), dbSNP, Palden Wangyel Dorji et al.(2019) CYP2D6_000001 rs1065852 3/7 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 4 3 c.358T>A - r.(?) p.(Phe120Ile) - -, ClinVar g.42129180A>T 1611T>A, F120I Fee Wai Chin et al. (2016), dbSNP, ClinVar, Palden Wangyel Dorji et al.(2019) CYP2D6_000002 rs1135822 1/7 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 3 c.506-1G>A - r.spl? p.? - ClinVar g.42128945C>T 1846G>A Fee Wai Chin et al. (2016), dbSNP, (OMIM 0001), ClinVar CYP2D6_000003 rs3892097 1/7 - Nuur Athirah Binti Mohd Daud
+/., -/. 2 6 c.886C>T - r.(?) p.(Arg296Cys) - Benign, ClinVar g.42127941G>A 2850C>T, R296C Fee Wai Chin et al. (2016), dbSNP, (OMIM 0007), ClinVar, Palden Wangyel Dorji et al.(2019) CYP2D6_000004 rs16947 1/7, 13/104 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 9 c.1322G>A - r.(?) p.(Arg441His) - - g.42126746C>T 4045G>A Fee Wai Chin et al. (2016), dbSNP CYP2D6_000005 rs532668079 1/7 - Nuur Athirah Binti Mohd Daud
+/., -/. 2 9 c.1457G>C - r.(?) p.(Ser486Thr) - Benign, other, ClinVar g.4180G>C, g.42126611C>G 4180G>C, S486T Fee Wai Chin et al. (2016), dbSNP, (OMIM 0007), ClinVar, Palden Wangyel Dorji et al.(2019) CYP2D6_000006 rs1135840 13/104, 5/7 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 - c.1758G>A - r.(=) p.(=) - - g.42129033C>G G169R Palden Wangyel Dorji et al.(2019) CYP2D6_000007 rs5030865 - - Nur Aisyah Athirah
+/. 1 - c.1846G>A - r.(=) p.(=) - drug response g.42128945C>T - Palden Wangyel Dorji et al.(2019) CYP2D6_000003 rs3892097 9/138 - Nur Aisyah Athirah
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