Variant #0000075534 (NC_000022.10:g.42523539A>G, NM_000106.4:c.1083T>C (CYP2D6))

Individual ID 00034028
Chromosome 22
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42523539A>G
DNA change (hg38) g.42127537A>G
Published as 3254T>C
ISCN -
DB-ID CYP2D6_000141 See all 3 reported entries
Variant remarks reference haplotype CYP2D6*46
Reference Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee
ClinVar ID -
dbSNP ID rs28371726
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 2015-07-25 17:13:07 +02:00 (CEST)
Date last edited 2016-07-01 16:50:52 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2D6 NM_000106.4 -?/-? 7 c.1083T>C r.(=) p.(His361=) CYP2D6*46



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034096 DNA;RNA RT-PCR;SEQ - - CYP2D6 20 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.