Variant #0000002295 (NC_000022.11:g.42130692G>A, CYP2D6(NM_000106.6):c.100C>T)

Individual ID 00000503
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.42130692G>A
Published as P34S
Reference Palden Wangyel Dorji et al.(2019)
DB-ID CYP2D6_000001 See all 4 reported entries
dbSNP ID rs1065852
Frequency -
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
CYP2D6 NM_000106.6 +/. - c.100C>T - r.(?) p.(Pro34Ser) - Likely benign, drug response, other



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000550 DNA ? CYP2D6 1 Nur Aisyah Athirah