Variant #0000172332 (NC_000019.9:g.41515263A>G, CYP2B6(NM_000767.4):c.785A>G)

Individual ID 00106157
Chromosome 19
Allele Parent #1
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.41515263A>G
DNA change (hg38) g.41009358A>G
Published as -
ISCN -
DB-ID CYP2B6_000040 See all 12 reported entries
Variant remarks reference allele CYP2B6*6/6A
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.12552 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP2B6 NM_000767.4 ./. 5 c.785A>G r.(=) p.(Lys262Arg) CYP2B6*6/6A



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106627 DNA SEQ - - CYP2B6 2 Johan den Dunnen