Variant #0000119403 (NC_000022.10:g.42522312=, NM_000106.4:c.*264G>A (CYP2D6))

Individual ID 00074475
Chromosome 22
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42522312=
DNA change (hg38) g.42126310C>T
Published as 4481G>A
ISCN -
DB-ID CYP2D6_000056 See all 31 reported entries
Variant remarks fully sequenced allele
Reference PubMed: Skierka 2012
ClinVar ID -
dbSNP ID rs116390392
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-07-03 22:05:43 +02:00 (CEST)
Date last edited 2020-07-17 13:53:45 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2D6 NM_000106.4 -/- 9 c.*264G>A r.*264a<g p.= CYP2D6*11



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074639 DNA SEQ - - CYP2D6 21 Johan den Dunnen


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