Variant #0000000779 (NC_000022.11:g.42126611C>G, NM_000106.6:c.1457G>C (CYP2D6))

Individual ID 00000151
Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.42126611C>G
Published as 4180G>C
Reference Fee Wai Chin et al. (2016), dbSNP, (OMIM 0007), ClinVar
DB-ID CYP2D6_000006 See all 2 reported entries
dbSNP ID rs1135840
Frequency 5/7
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-17 10:55:10 +08:00 (CST)
Date last edited 2021-08-23 10:10:06 +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 -/. 9 c.1457G>C - r.(?) p.(Ser486Thr) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000166 DNA PCRm CYP2D6 6 Nuur Athirah Binti Mohd Daud