Variant #0000002286 (NC_000022.11:g.42127941G>A, NM_000106.6:c.886C>T (CYP2D6))

Individual ID 00000501
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.42127941G>A
Published as R296C
Reference Palden Wangyel Dorji et al.(2019)
DB-ID CYP2D6_000004 See all 2 reported entries
dbSNP ID rs16947
Frequency 13/104
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-09 16:19:53 +08:00 (CST)
Date last edited 2021-08-01 13:19:36 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
CYP2D6 NM_000106.6 +/. - c.886C>T - r.(?) p.(Arg296Cys) - Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000547 DNA ? CYP2D6 6 Nur Aisyah Athirah